sickle cell anemia

Summary

Summary: A disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs. It is the clinical expression of homozygosity for hemoglobin S.

Top Publications

  1. ncbi Prediction of adverse outcomes in children with sickle cell disease
    S T Miller
    State University of New York Downstate Medical Center, Brooklyn 11203, USA
    N Engl J Med 342:83-9. 2000
  2. pmc Red blood cell aggregation, aggregate strength and oxygen transport potential of blood are abnormal in both homozygous sickle cell anemia and sickle-hemoglobin C disease
    Julien Tripette
    Laboratoire ACTES, EA 3596, Departement de Physiologie, Universite des Antilles et de la Guyane, Campus de Fouillole, Pointe a Pitre, Guadeloupe, French West Indies
    Haematologica 94:1060-5. 2009
  3. pmc Malaria in patients with sickle cell anemia: burden, risk factors, and outcome at the outpatient clinic and during hospitalization
    Julie Makani
    Department of Haematology and Blood Transfusion, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania
    Blood 115:215-20. 2010
  4. ncbi Sickle-cell disease
    Marie J Stuart
    Department of Pediatrics, Division of Hematology, the Marian Anderson Sickle Cell Anemia Research Hematology Laboratories, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Lancet 364:1343-60. 2004
  5. ncbi Predictors of fetal hemoglobin response in children with sickle cell anemia receiving hydroxyurea therapy
    Russell E Ware
    Duke University Medical Center, Durham, NC 27710, USA
    Blood 99:10-4. 2002
  6. ncbi Predicting clinical severity in sickle cell anaemia
    M H Steinberg
    Department of Medicine, Boston University School of Medicine and the Center of Excellence in Sickle Cell Disease, Boston Medical Center, 88 E Newton Street, Boston, MA 02118, USA
    Br J Haematol 129:465-81. 2005
  7. pmc Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster
    Nadia Solovieff
    Department of Biostatistics, Boston University School of Public Health, MA, USA
    Blood 115:1815-22. 2010
  8. ncbi Activated monocytes in sickle cell disease: potential role in the activation of vascular endothelium and vaso-occlusion
    J D Belcher
    Division of Hematology, Oncology and Transplantation, Department of Medicine, University of Minnesota, Minneapolis, MN, USA
    Blood 96:2451-9. 2000
  9. ncbi Maintenance of elevated fetal hemoglobin levels by decitabine during dose interval treatment of sickle cell anemia
    Joseph DeSimone
    University of Illinois at Chicago and the Veterans Administration Chicago West Side Division, IL 60612, USA
    Blood 99:3905-8. 2002
  10. doi G6PD deficiency, absence of alpha-thalassemia, and hemolytic rate at baseline are significant independent risk factors for abnormally high cerebral velocities in patients with sickle cell anemia
    Francoise Bernaudin
    Reference Center for Sickle Cell Disease, Department of Pediatrics, Intercommunal Créteil Hospital, Creteil, France
    Blood 112:4314-7. 2008

Research Grants

  1. Enrico M Novelli; Fiscal Year: 2016
  2. Role of murine induced pluripotent stem cells on the correction of cardiac and sk
    Diego Fraidenraich; Fiscal Year: 2010
  3. Non-viral gene therapy for sickle cell anemia
    CLIFFORD JOHN STEER; Fiscal Year: 2012
  4. Punam Malik; Fiscal Year: 2016
  5. Transplantation tolerance and immune function following mTOR inhibition.
    Jonathan D Powell; Fiscal Year: 2013
  6. Functional analysis of mDia formins in hematopoietic stem cell engraftment and mi
    Peng Ji; Fiscal Year: 2010
  7. Globin Gene Expression during Erythroid Differentiation
    Gordon D Ginder; Fiscal Year: 2010
  8. Effect of Diet on Inflammation in Sicke Cell Mice
    Jacqueline M Hibbert; Fiscal Year: 2010
  9. Beta-Globin Gene Correction Using Peptide Nucleic Acids for the Treatment of Sick
    GERALD FRANCIS VOVIS; Fiscal Year: 2010
  10. JULIE ANNE BASTARACHE; Fiscal Year: 2014

Detail Information

Publications359 found, 100 shown here

  1. ncbi Prediction of adverse outcomes in children with sickle cell disease
    S T Miller
    State University of New York Downstate Medical Center, Brooklyn 11203, USA
    N Engl J Med 342:83-9. 2000
    The ability to identify infants with sickle cell anemia who are likely to have severe complications later in life would permit accurate prognostication and tailoring of therapy to match disease-related risks and facilitate planning of ..
  2. pmc Red blood cell aggregation, aggregate strength and oxygen transport potential of blood are abnormal in both homozygous sickle cell anemia and sickle-hemoglobin C disease
    Julien Tripette
    Laboratoire ACTES, EA 3596, Departement de Physiologie, Universite des Antilles et de la Guyane, Campus de Fouillole, Pointe a Pitre, Guadeloupe, French West Indies
    Haematologica 94:1060-5. 2009
    ..It thus seems likely that these factors could play a role in sickle cell disease...
  3. pmc Malaria in patients with sickle cell anemia: burden, risk factors, and outcome at the outpatient clinic and during hospitalization
    Julie Makani
    Department of Haematology and Blood Transfusion, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania
    Blood 115:215-20. 2010
    Approximately 280,000 children are born with sickle cell anemia (SCA) in Africa annually, yet few survive beyond childhood. Falciparum malaria is considered a significant cause of this mortality...
  4. ncbi Sickle-cell disease
    Marie J Stuart
    Department of Pediatrics, Division of Hematology, the Marian Anderson Sickle Cell Anemia Research Hematology Laboratories, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Lancet 364:1343-60. 2004
    ..Understanding of disease as the result of a continuing interaction between basic scientists and clinical researchers is best exemplified by this entity...
  5. ncbi Predictors of fetal hemoglobin response in children with sickle cell anemia receiving hydroxyurea therapy
    Russell E Ware
    Duke University Medical Center, Durham, NC 27710, USA
    Blood 99:10-4. 2002
    In the phase I/II pediatric hydroxyurea safety trial (HUG-KIDS), school-aged children with sickle cell anemia receiving hydroxyurea at the maximally tolerated dose (MTD) had variable increases in the percentage of fetal hemoglobin (%HbF)...
  6. ncbi Predicting clinical severity in sickle cell anaemia
    M H Steinberg
    Department of Medicine, Boston University School of Medicine and the Center of Excellence in Sickle Cell Disease, Boston Medical Center, 88 E Newton Street, Boston, MA 02118, USA
    Br J Haematol 129:465-81. 2005
    ....
  7. pmc Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster
    Nadia Solovieff
    Department of Biostatistics, Boston University School of Public Health, MA, USA
    Blood 115:1815-22. 2010
    In a genome-wide association study of 848 blacks with sickle cell anemia, we identified single nucleotide polymorphisms (SNPs) associated with fetal hemoglobin concentration...
  8. ncbi Activated monocytes in sickle cell disease: potential role in the activation of vascular endothelium and vaso-occlusion
    J D Belcher
    Division of Hematology, Oncology and Transplantation, Department of Medicine, University of Minnesota, Minneapolis, MN, USA
    Blood 96:2451-9. 2000
    b>Sickle cell anemia is characterized by painful vaso-occlusive crises. It is hypothesized that monocytes are activated in sickle cell disease and can enhance vaso-occlusion by activating endothelium...
  9. ncbi Maintenance of elevated fetal hemoglobin levels by decitabine during dose interval treatment of sickle cell anemia
    Joseph DeSimone
    University of Illinois at Chicago and the Veterans Administration Chicago West Side Division, IL 60612, USA
    Blood 99:3905-8. 2002
    ..that 5-aza-2'-deoxycytidine (decitabine) augments fetal hemoglobin (HbF) levels in patients with sickle cell anemia (SS) who did not respond to hydroxyurea (HU)...
  10. doi G6PD deficiency, absence of alpha-thalassemia, and hemolytic rate at baseline are significant independent risk factors for abnormally high cerebral velocities in patients with sickle cell anemia
    Francoise Bernaudin
    Reference Center for Sickle Cell Disease, Department of Pediatrics, Intercommunal Créteil Hospital, Creteil, France
    Blood 112:4314-7. 2008
    ..defining predictive factors for abnormally high velocities (>/= 2 m/sec) based on the Créteil pediatric sickle cell anemia (SCA) cohort composed of 373 stroke-free SCA children...
  11. doi Sickle cell anemia and vascular dysfunction: the nitric oxide connection
    Idowu Akinsheye
    Department of Medicine, Boston University School of Medicine, Boston, Massachusetts 02118, USA
    J Cell Physiol 224:620-5. 2010
    Endothelial dysfunction and impaired nitric oxide bioavailability have been implicated in the pathogenesis of sickle cell anemia. Nitric oxide is a diatomic gas with a role in vascular homeostasis...
  12. ncbi Sickle cell disease in Africa
    Dapa Diallo
    Hematology Laboratory, Faculty of Medicine, Pharmacy and Odontostomatology, Bamako, Mali
    Curr Opin Hematol 9:111-6. 2002
    ..Efforts to adapt therapeutic options and overcome difficulties are presented and analyzed...
  13. pmc Clinical correlates of steady-state oxyhaemoglobin desaturation in children who have sickle cell disease
    Charles T Quinn
    Division of Hematology Oncology, Department of Pediatrics, University of Texas Southwestern Medical Center at Dallas, Dallas, TX 75390 9063, USA
    Br J Haematol 131:129-34. 2005
    ..We conclude that steady-state desaturation is common in individuals with SCD, but it appears to be unrelated to prior episodes of ACS and largely unexplained by chronic anaemia...
  14. ncbi In vitro antidrepanocytary actvity (anti-sickle cell anemia) of some congolese plants
    P T Mpiana
    Departement de Chimie, Universite de Kinshasa, Kinshasa XI, R D Congo
    Phytomedicine 14:192-5. 2007
    ....
  15. ncbi Treatment of sickle cell anemia mouse model with iPS cells generated from autologous skin
    Jacob Hanna
    Whitehead Institute for Biomedical Research, Cambridge, MA 02142, USA
    Science 318:1920-3. 2007
    ..By using a humanized sickle cell anemia mouse model, we show that mice can be rescued after transplantation with hematopoietic progenitors obtained ..
  16. pmc High mortality from Plasmodium falciparum malaria in children living with sickle cell anemia on the coast of Kenya
    Charlotte F McAuley
    Centre for Geographic Medicine Research Coast, Kilifi, Kenya
    Blood 116:1663-8. 2010
    Although malaria is widely considered a major cause of death in young children born with sickle cell anemia (SCA) in sub-Saharan Africa, this is poorly quantified...
  17. ncbi Sickle cell anemia: a potential nutritional approach for a molecular disease
    S T Ohnishi
    Philadelphia Biomedical Research Institute, King of Prussia, Pennsylvania 19406, USA
    Nutrition 16:330-8. 2000
    A certain population of red blood cells in patients with sickle cell anemia has an elevated density and possesses an abnormal membrane...
  18. ncbi Prospective RBC phenotype matching in a stroke-prevention trial in sickle cell anemia: a multicenter transfusion trial
    E P Vichinsky
    Department of Hematology Oncology, Children s Hospital Oakland, Oakland, California 94609, USA
    Transfusion 41:1086-92. 2001
    Most sickle cell anemia patients undergo transfusion therapy to prevent complications. The Stroke Prevention Trial in Sickle Cell Anemia showed that transfusion therapy is effective in the primary prevention of stroke...
  19. ncbi Pulmonary hypertension as a risk factor for death in patients with sickle cell disease
    Mark T Gladwin
    Critical Care Medicine Department, Clinical Center, National Institutes of Health, Bethesda, MD 20892 1662, USA
    N Engl J Med 350:886-95. 2004
    ..The prevalence of pulmonary hypertension in adults with sickle cell disease, the mechanism of its development, and its prospective prognostic significance are unknown...
  20. ncbi Cell-free hemoglobin limits nitric oxide bioavailability in sickle-cell disease
    Christopher D Reiter
    Critical Care Medicine Department of the Warren G Magnuson Clinical Center, National Institutes of Health, Bethesda, Maryland, USA
    Nat Med 8:1383-9. 2002
    ..Decompartmentalization of hemoglobin and subsequent dioxygenation of nitric oxide may explain the vascular complications shared by acute and chronic hemolytic disorders...
  21. doi Hydroxyurea for the treatment of sickle cell anemia
    Orah S Platt
    Department of Laboratory Medicine, Children s Hospital Boston, MA 02115, USA
    N Engl J Med 358:1362-9. 2008
  22. pmc DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease
    Guillaume Lettre
    Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA
    Proc Natl Acad Sci U S A 105:11869-74. 2008
    ..We also have shown that HbF-associated SNPs associate with pain crisis rate in SCD patients. These results provide a clear example of inherited common sequence variants modifying the severity of a monogenic disease...
  23. pmc Genetic modifiers of the severity of sickle cell anemia identified through a genome-wide association study
    Paola Sebastiani
    Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA
    Am J Hematol 85:29-35. 2010
    ..association study (GWAS) to discover single nucleotide polymorphisms (SNPs) associated with the severity of sickle cell anemia in 1,265 patients with either "severe" or "mild" disease based on a network model of disease severity...
  24. doi Coagulation activation and inflammation in sickle cell disease-associated pulmonary hypertension
    Kenneth I Ataga
    Division of Hematology Oncology, Department of Medicine, University of North Carolina at Chapel Hill, CB 7305, 3009 Old Clinic Bldg Chapel Hill, NC 27599 7305, USA
    Haematologica 93:20-6. 2008
    ..Pulmonary hypertension (PHT) is common in sickle cell disease (SCD). The purpose of this study was to determine whether markers of coagulation activation and inflammation are associated with PHT in SCD...
  25. pmc Glomerular hyperfiltration in adult sickle cell anemia: a frequent hemolysis associated feature
    Jean Philippe Haymann
    Universite Pierre et Marie Curie, Universite Paris 6, Institut National de la Santé et de la Recherche Médicale Unit 702, Physiology, Paris, France
    Clin J Am Soc Nephrol 5:756-61. 2010
    b>Sickle cell anemia-associated nephropathy is a growing matter of concern because renal failure affects most aging sickle cell anemia patients. Glomerular damage is a common feature revealed by a microalbuminuria or a macroalbuminuria...
  26. ncbi A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15
    Stephan Menzel
    King s College London School of Medicine, Division of Gene and Cell Based Therapy, King s Denmark Hill Campus, London SE5 9PJ, UK
    Nat Genet 39:1197-9. 2007
    ..The 2p15 BCL11A quantitative trait locus accounts for 15.1% of the trait variance...
  27. pmc The risks and benefits of long-term use of hydroxyurea in sickle cell anemia: A 17.5 year follow-up
    Martin H Steinberg
    Department of Medicine, Boston University School of Medicine, Boston Medical Center, Massachusetts, USA
    Am J Hematol 85:403-8. 2010
    ..controlled clinical trial established the efficacy and safety of short-term use of hydroxyurea in adult sickle cell anemia. To examine the risks and benefits of long-term hydroxyurea usage, patients in this trial were followed for ..
  28. pmc Single tube genotyping of sickle cell anaemia using PCR-based SNP analysis
    C M Waterfall
    Molecular Sensing plc, Unit 3, Challeymead Business Park, Bradford Road, Melksham, Wiltshire SN12 8LH, UK
    Nucleic Acids Res 29:E119. 2001
    ....
  29. pmc The hSK4 (KCNN4) isoform is the Ca2+-activated K+ channel (Gardos channel) in human red blood cells
    Joseph F Hoffman
    Department of Cellular and Molecular Physiology, Yale University, New Haven, CT 06520, USA
    Proc Natl Acad Sci U S A 100:7366-71. 2003
    ..This channel is important pathophysiologically, because it represents the major pathway for cell shrinkage via KCl and water loss that occurs in sickle cell disease...
  30. ncbi Sickle cell disease in Africa: burden and research priorities
    J Makani
    Department of Haematology and Blood Transfusion, Muhimbili University College of Health Sciences, P O Box 65001, Dar es Salaam, Tanzania
    Ann Trop Med Parasitol 101:3-14. 2007
    ....
  31. ncbi Fetal hemoglobin in sickle cell anemia: Bayesian modeling of genetic associations
    Paola Sebastiani
    Department of Biostatistics, Boston University School of Public Heath, Boston, Massachusetts 02118, USA
    Am J Hematol 83:189-95. 2008
    ..HbF) concentration on chromosomes 6q, 8q, and Xp, and (3) candidate genes that could effect HbF levels, in sickle cell anemia subjects...
  32. ncbi Polymorphisms near a chromosome 6q QTL area are associated with modulation of fetal hemoglobin levels in sickle cell anemia
    D F Wyszynski
    Department of Medicine, Genetics Program, Center of Excellence in Sickle Cell Disease, E211, Boston Medical Center, 88 E Newton Street, Boston, MA 02118, USA
    Cell Mol Biol (Noisy-le-grand) 50:23-33. 2004
    In patients with sickle cell anemia, fetal hemoglobin (HbF) concentrations vary by 2 orders of magnitude...
  33. ncbi Daily assessment of pain in adults with sickle cell disease
    Wally R Smith
    Division of Quality Health Care, Department of Internal Medicine, Virginia Commonwealth University, Richmond, Virginia 23298, USA
    Ann Intern Med 148:94-101. 2008
    ..However, utilization may not completely reflect the amount of self-reported pain or acute, painful episodes (crises)...
  34. ncbi Causes and outcomes of the acute chest syndrome in sickle cell disease. National Acute Chest Syndrome Study Group
    E P Vichinsky
    Department of Hematology Oncology, Children s Hospital Oakland, Calif 94609, USA
    N Engl J Med 342:1855-65. 2000
    ..Since its cause is largely unknown, therapy is supportive. Pilot studies with improved diagnostic techniques suggest that infection and fat embolism are underdiagnosed in patients with the syndrome...
  35. ncbi Gene interactions and stroke risk in children with sickle cell anemia
    Carolyn Hoppe
    Department of Hematology Oncology, Children s Hospital and Research Center at Oakland, 747 52nd St, Oakland, CA 94609, USA
    Blood 103:2391-6. 2004
    Stroke is a devastating complication of sickle cell anemia (SCA), affecting up to 30% of children with the disease. Despite the relative frequency of stroke in SCA, few predictors of risk exist...
  36. ncbi Sickle cell anemia in Guadeloupean children: pattern and prevalence of acute clinical events
    Vanessa Tarer
    Inserm UMR 458 Université des Antilles et de la Guyane
    Eur J Haematol 76:193-9. 2006
    We analyzed the records of 153 Guadeloupean children with sickle cell anemia (SCA), for whom clinical and laboratory data were prospectively collected (mean follow-up duration 8.4 +/- 4.6 yr)...
  37. pmc Inverse correlation between cerebral blood flow measured by continuous arterial spin-labeling (CASL) MRI and neurocognitive function in children with sickle cell anemia (SCA)
    John J Strouse
    Division of Pediatric Hematology, Department of Pediatrics, the Neurocirculatory Physiology Laboratory, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Blood 108:379-81. 2006
    ..stroke, clinically "silent" cerebral infarct, and neurocognitive impairment are frequent complications of sickle cell anemia (SCA)...
  38. doi Venous incompetence, poverty and lactate dehydrogenase in Jamaica are important predictors of leg ulceration in sickle cell anaemia
    V Cumming
    Sickle Cell Unit, Tropical Medicine Research Institute, University of the West Indies, Kingston, Jamaica, West Indies
    Br J Haematol 142:119-25. 2008
    ..In Jamaica, venous incompetence, low socio-economic status, and high serum LDH were the strongest predictors of chronic ulceration...
  39. pmc How I use hydroxyurea to treat young patients with sickle cell anemia
    Russell E Ware
    Department of Hematology, St Jude Children s Research Hospital, Memphis, TN 38105, USA
    Blood 115:5300-11. 2010
    Hydroxyurea has many characteristics of an ideal drug for sickle cell anemia (SCA) and provides therapeutic benefit through multiple mechanisms of action...
  40. pmc Hypoxia/reoxygenation causes inflammatory response in transgenic sickle mice but not in normal mice
    D K Kaul
    Albert Einstein College of Medicine, Bronx, New York 10461, USA
    J Clin Invest 106:411-20. 2000
    In sickle cell anemia, the initiation, progression, and resolution of a vasoocclusive episode may present features of ischemia-reperfusion injury, with recurrent episodes of ischemia/hypoxia and reoxygenation promoting inflammation...
  41. ncbi Increased bone turnover is associated with protein and energy metabolism in adolescents with sickle cell anemia
    M S Buchowski
    Center for Nutrition and Department of Family Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA
    Am J Physiol Endocrinol Metab 280:E518-27. 2001
    Contribution of bone turnover to the hypercatabolic state observed in sickle cell anemia is unknown...
  42. doi Circulating endothelial cells: a potential parameter of organ damage in sickle cell anemia?
    Michiel H Strijbos
    Department of Medical Oncology, Erasmus Medical Center, Rotterdam, The Netherlands
    Blood Cells Mol Dis 43:63-7. 2009
    ..002). No significant correlations between CEC and any other laboratory parameter were detected. In conclusion, CECs could prove to be an important new tool for assessing developing vasculopathy and organ damage in SCD...
  43. ncbi Risk factors for microalbuminuria in children with sickle cell anemia
    Patricia Geraty McBurney
    Department of Pediatrics, Medical College of Georgia, Ausgusta, Georgia 30912 3795, USA
    J Pediatr Hematol Oncol 24:473-7. 2002
    To determine the prevalence of microalbuminuria and to establish clinical characteristics associated with microalbuminuria in children with sickle cell anemia.
  44. ncbi The endothelial biology of sickle cell disease: inflammation and a chronic vasculopathy
    Robert P Hebbel
    Vascular Biology Center and Division of Hematology Oncology Transplantation, Department of Medicine, University of Minnesota Medical School, Minneapolis, Minnesota 55455, USA
    Microcirculation 11:129-51. 2004
    A single amino acid substitution in hemoglobin comprises the molecular basis for sickle cell anemia, but evolution of the corresponding clinical disease is extraordinarily complicated and likely involves multiple pathogenic factors...
  45. pmc Markers of bone turnover are associated with growth and development in young subjects with sickle cell anemia
    Ellen B Fung
    Department of Hematology, The Children s Hospital and Research Center, Oakland, California, USA
    Pediatr Blood Cancer 50:620-3. 2008
    Children with sickle cell anemia (SCA) have low bone mass though bone turnover has not been well described...
  46. doi Mandibular bone changes in sickle cell anemia: fractal analysis
    Ayşegül Kaya Demirbaş
    Ege University School of Dentistry, Department of Restorative Dentistry, Izmir, Turkey
    Oral Surg Oral Med Oral Pathol Oral Radiol Endod 106:e41-8. 2008
    The radiographic changes of mandibular bone texture was evaluated in patients with sickle cell anemia (SCA) and healthy controls. Fractal analysis was employed.
  47. ncbi Renal dysfunction in patients with sickle cell anemia or sickle cell trait
    R Sesso
    Divisõe de Nefrologia, Escola Paulista de Medicina, Universidade Federal de Sao Paulo, Brasil
    Braz J Med Biol Res 31:1257-62. 1998
    Patients with sickle cell anemia (Hb SS) or sickle cell trait (Hb AS) may present several types of renal dysfunction; however, comparison of the prevalence of these abnormalities between these two groups and correlation with the duration ..
  48. ncbi Vaso-occlusion in sickle cell anemia: role of interactions between blood cells and endothelium
    Jacques E Elion
    Hôpital Robert Debé, Paris, France
    Hematol J 5:S195-8. 2004
  49. ncbi Zinc and antioxidant vitamin deficiency in patients with severe sickle cell anemia
    Rana M W Hasanato
    Department of Medical Biochemistry, College of Medicine and King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia
    Ann Saudi Med 26:17-21. 2006
    Patients with severe sickle cell anemia (SCA) have a higher potential for oxidative damage due to chronic redox imbalance in red blood cells that often leads to hemolysis, endothelial injury and recurrent vaso-occlusive episodes...
  50. pmc Asthma is associated with acute chest syndrome and pain in children with sickle cell anemia
    Jessica H Boyd
    Department of Pediatrics, Division of Allergy and Pulmonary Medicine, Washington University School of Medicine in St Louis, Patient Oriented Research Unit, 4444 Forest Park Blvd, CB 8519, St Louis, MO 63108, USA
    Blood 108:2923-7. 2006
    ..and acute chest syndrome (ACS) episodes are 2 of the most common causes of hospitalization in children with sickle cell anemia (SCA). However, very few potentially modifiable risk factors for either condition have been identified...
  51. ncbi Asthma is associated with increased mortality in individuals with sickle cell anemia
    Jessica H Boyd
    Department of Pediatrics, Division of Allergy and Pulmonary Medicine, Washington University School of Medicine, St Louis, MO 63108, USA
    Haematologica 92:1115-8. 2007
    An analysis of a prospective cohort of individuals with sickle cell anemia (SCA), enrolled from birth through adulthood, was conducted to determine if asthma is a risk factor for death in SCA...
  52. pmc Chronic hyper-hemolysis in sickle cell anemia: association of vascular complications and mortality with less frequent vasoocclusive pain
    James G Taylor
    Pulmonary and Vascular Medicine Branch, National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS ONE 3:e2095. 2008
    Intravascular hemolysis in sickle cell anemia could contribute to complications associated with nitric oxide deficiency, advancing age, and increased mortality...
  53. doi Compliance with antibiotic prophylaxis in children with sickle cell anemia: a prospective study
    Enio Latini Bitarães
    Fundação Mineira de Educação e Cultura Faculdade de Ciências da Saúde FUMEC FCS, Belo Horizonte, MG, Brazil
    J Pediatr (Rio J) 84:316-22. 2008
    To prospectively assess compliance with antibiotic prophylaxis among children with sickle cell anemia.
  54. pmc Induced pluripotent stem cells offer new approach to therapy in thalassemia and sickle cell anemia and option in prenatal diagnosis in genetic diseases
    Lin Ye
    Department of Medicine, University of California, San Francisco, CA 94143 0793, USA
    Proc Natl Acad Sci U S A 106:9826-30. 2009
    ..stem cells provides a possible new approach to treat beta-thalassemia and other genetic diseases such as sickle cell anemia. Induced pluripotent stem (iPS) cells can be made from these patients' somatic cells and the mutation in the ..
  55. ncbi Safety of hydroxyurea in children with sickle cell anemia: results of the HUG-KIDS study, a phase I/II trial. Pediatric Hydroxyurea Group
    T R Kinney
    Duke Pediatric Sickle Cell Program, Duke Children s Hospital, Durham, NC 27710, USA
    Blood 94:1550-4. 1999
    ..profile, laboratory changes, and clinical efficacy associated with hydroxyurea (HU) therapy in adults with sickle cell anemia. The safety and efficacy of this agent in pediatric patients with sickle cell anemia has not been determined...
  56. ncbi The contribution of endothelial cell P-selectin to the microvascular flow of mouse sickle erythrocytes in vivo
    Stephen H Embury
    Department of Medicine, University of San Francisco, CA, USA
    Blood 104:3378-85. 2004
    ..We conclude that endothelial cell P-selectin contributes to the microcirculatory abnormalities in sickle cell disease and that blocking P-selectin may be useful for preventing painful vasoocclusion in sickle cell disease...
  57. ncbi Outcome of sickle cell anemia: a 4-decade observational study of 1056 patients
    Darleen R Powars
    Department of Pediatrics, Division of Hematology, CA 90033, USA
    Medicine (Baltimore) 84:363-76. 2005
    Based on a prospective cohort study of 1056 patients with sickle cell anemia (Hb SS) initiated in 1959, we investigated the influence of calendar era, age, sex, and prior medical conditions on the subsequent development of irreversible ..
  58. ncbi Biologically active CD40 ligand is elevated in sickle cell anemia: potential role for platelet-mediated inflammation
    Sheritha P Lee
    Department of Pharmacology, University of North Carolina, CB 7365, Chapel Hill, NC 27599 7365, USA
    Arterioscler Thromb Vasc Biol 26:1626-31. 2006
    ..Because sickle cell anemia (SCA) is noted for both platelet activation and chronic inflammation, we asked whether platelet-released ..
  59. pmc Platelet activation in patients with sickle disease, hemolysis-associated pulmonary hypertension, and nitric oxide scavenging by cell-free hemoglobin
    Jose Villagra
    Vascular Medicine Branch of National Heart, Lung, and Blood Institute, Clinical Center, National Institutes of Health, Bethesda, MD 20892 1476, USA
    Blood 110:2166-72. 2007
    ..This supports a role for NO-based therapeutics for SCD vasculopathy. This trial was registered at www.clinicaltrials.gov as no. NCT00352430...
  60. ncbi Enhanced erythrocyte apoptosis in sickle cell anemia, thalassemia and glucose-6-phosphate dehydrogenase deficiency
    Karl S Lang
    Department of Physiology, University of Tuebingen, Germany
    Cell Physiol Biochem 12:365-72. 2002
    Erythrocyte diseases such as sickle cell anemia, thalassemia and glucose-6-phosphate dehydrogenase deficiency decrease the erythrocyte life span, an effect contributing to anemia...
  61. ncbi Fetal hemoglobin in sickle cell anemia: genetic determinants of response to hydroxyurea
    Q Ma
    Department of Medicine, Boston University School of Medicine, Boston, MA, USA
    Pharmacogenomics J 7:386-94. 2007
    The increase in fetal hemoglobin (HbF) in response to hydroxyurea (HU) varies among patients with sickle cell anemia. Twenty-nine candidate genes within loci previously reported to be linked to HbF level (6q22.3-q23.2, 8q11-q12 and Xp22...
  62. ncbi Depression and anxiety in adults with sickle cell disease: the PiSCES project
    James L Levenson
    Department of Psychiatry, Virginia Commonwealth University, Box 980268, Richmond, VA 23298, USA
    Psychosom Med 70:192-6. 2008
    ..This study measured prevalence of depression and anxiety in SCD adults, and their effects on crisis and noncrisis pain, quality-of-life, opioid usage, and healthcare utilization...
  63. ncbi Reperfusion injury pathophysiology in sickle transgenic mice
    U R Osarogiagbon
    Department of Medicine, University of Minnesota Medical School, Minneapolis, MN, USA
    Blood 96:314-20. 2000
    ..We suggest that reperfusion injury physiology may contribute to the evolution of the chronic organ damage characteristic of sickle cell disease. If so, novel therapeutic approaches might be of value...
  64. ncbi Transgenic sickle mice have vascular inflammation
    John D Belcher
    Department of Medicine, Division of Hematology, Oncology and Transplantation, University of Minnesota, Minneapolis 55455, USA
    Blood 101:3953-9. 2003
    ..006) in NY-S sickle mouse lungs. We conclude that transgenic sickle mice are good models to study vascular inflammation and the potential benefit of anti-inflammatory therapies to prevent vaso-occlusion in sickle cell disease...
  65. ncbi Sickle cell disease in Uganda: a time for action
    G R Serjeant
    University of the West Indies, 14 Milverton Cresent, Kingston 6 Jamaica
    East Afr Med J 80:384-7. 2003
    ..To highlight the dangers of applying interventions developed in non-malarial areas to regions where malaria may change the natural history and outcome of sickle cell disease...
  66. pmc Lactate dehydrogenase as a biomarker of hemolysis-associated nitric oxide resistance, priapism, leg ulceration, pulmonary hypertension, and death in patients with sickle cell disease
    Gregory J Kato
    Vascular Medicine Branch, National Heart, Lung and Blood Institute, National Institutes of Health, 10 Center Dr, MSC 1476, Bldg 10CRC, Rm 5 5140, Bethesda, MD 20892, USA
    Blood 107:2279-85. 2006
    ..We propose that LDH elevation identifies patients with a syndrome of hemolysis-associated NO resistance, endothelial dysfunction, and end-organ vasculopathy...
  67. pmc Types of anaemic crises in paediatric patients with sickle cell anaemia seen in Enugu, Nigeria
    A I Juwah
    Department of Paediatrics, University of Nigeria Teaching Hospital, Enugu, Nigeria
    Arch Dis Child 89:572-6. 2004
    ..Some children admitted to hospitals' emergency rooms or paediatric wards of the hospitals with severe anaemia die before blood transfusion...
  68. ncbi Effect of a comprehensive clinical care program on disease course in severely ill children with sickle cell anemia in a sub-Saharan African setting
    Mohamed Cherif Rahimy
    Newborn Screening for Sickle Cell Disease and Comprehensive Clinical Care Programs, Faculty of Health Sciences, Cotonou, National University of Republic of Benin West Africa, Cotonou, Republic of Benin
    Blood 102:834-8. 2003
    Clinical severity of sickle cell anemia (SS) in Africa may not be solely determined by genetic factors. This study evaluated the effects of intensive parental education and adequate clinical care on the course of SS in children in Benin...
  69. ncbi Pulmonary hypertension in patients with sickle cell disease: a longitudinal study
    Kenneth I Ataga
    Division of Hematology Oncology and Comprehensive Sickle Cell Program, University of North Carolina, Chapel Hill, NC, USA
    Br J Haematol 134:109-15. 2006
    ..Higher levels of fetal haemoglobin and treatment with hydroxycarbamide were observed more frequently in patients without PHT. Thirteen per cent of patients with no previous evidence of PHT developed PHT following 3 years of observation...
  70. ncbi Anti-sickling potential of a Nigerian herbal formula (ajawaron HF) and the major plant component (Cissus populnea L. CPK)
    J O Moody
    Department of Pharmacognosy, Faculty of Pharmacy, University of Ibadan, Nigeria
    Phytother Res 17:1173-6. 2003
    ..4% inhibition of sickling at the end of 180 min incubation when compared with the normal saline control. The maximum percentage inhibition of sickling exhibited by the p-hydroxybenzoic acid control was 46.0% at 90 min incubation...
  71. ncbi Critical role of endothelial cell activation in hypoxia-induced vasoocclusion in transgenic sickle mice
    John D Belcher
    Division of Hematology, Oncology, and Transplantation, Dept of Medicine, Univ of Minnesota, MMC 480, 420 Delaware St SE, Minneapolis, MN 55455, USA
    Am J Physiol Heart Circ Physiol 288:H2715-25. 2005
    ..Rebounds in vasoocclusive crises after dexamethasone withdrawal are caused by rebounds in endothelial cell activation...
  72. ncbi Hyperhemolysis during the evolution of uncomplicated acute painful episodes in patients with sickle cell anemia
    Samir K Ballas
    Cardeza Foundation for Hematologic Research, Department of Medicine, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA
    Transfusion 46:105-10. 2006
    Some patients with sickle cell anemia (SS) experience significant decrease in their hemoglobin (Hb) level and significant increase in reticulocyte count during the progression of uncomplicated acute painful episodes...
  73. doi Efficacy and safety of the Gardos channel blocker, senicapoc (ICA-17043), in patients with sickle cell anemia
    Kenneth I Ataga
    Division of Hematology Oncology, University of North Carolina at Chapel Hill, CB no 7305, 3009 Old Clinic Bldg, Chapel Hill, NC 27599 7305, USA
    Blood 111:3991-7. 2008
    ..study, we evaluated senicapoc's safety and its effect on hemoglobin level and markers of RBC hemolysis in sickle cell anemia patients...
  74. doi Genetic etiologies for phenotypic diversity in sickle cell anemia
    Martin H Steinberg
    Boston University School of Medicine, Boston, MA 02118, USA
    ScientificWorldJournal 9:46-67. 2009
    The clinical course of patients with sickle cell anemia, a Mendelian trait, is characteristically highly variable...
  75. ncbi Effect of hydroxyurea on mortality and morbidity in adult sickle cell anemia: risks and benefits up to 9 years of treatment
    Martin H Steinberg
    Boston University School of Medicine, Center of Excellence in Sickle Cell Disease, Boston Medical Center, Boston, Mass 02118, USA
    JAMA 289:1645-51. 2003
    Hydroxyurea increases levels of fetal hemoglobin (HbF) and decreases morbidity from vaso-occlusive complications in patients with sickle cell anemia (SCA). High HbF levels reduce morbidity and mortality.
  76. ncbi The frequency of the sickle allele in Jamaica has not declined over the last 22 years
    N A Hanchard
    Tropical Metabolism Research Unit, Tropical Medicine Research Institute, University of West Indies, Kingston, Jamaica
    Br J Haematol 130:939-42. 2005
    ..Refining the expectations for allele and trait frequency change for Jamaica and other similar populations is an area for future study...
  77. ncbi Effect of hydroxyurea on the deformability of the red blood cell membrane in patients with sickle cell anemia
    G Athanassiou
    Laboratory of Biomedical Engineering, Department of Mechanical Engineering and Aeronautics, University of Patras, Greece
    Clin Hemorheol Microcirc 35:291-5. 2006
    ..membrane (RBCM) in an effort to possibly improve the rheological properties of the RBCs of patients with sickle cell anemia (SCA), as well as to investigate the mechanical and rheological properties of these cells using micropipette ..
  78. pmc Lipid levels in sickle-cell disease associated with haemolytic severity, vascular dysfunction and pulmonary hypertension
    Suzana Zorca
    Pulmonary and Vascular Medicine Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA
    Br J Haematol 149:436-45. 2010
    ..05). These results characterize elevated plasma triglyceride levels as a potential risk factor for PH in SCD...
  79. ncbi Renal function in children with sickle cell anemia
    A Karabay Bayazit
    Department of Pediatric Nephrology, Cukurova University School of Medicine, Balcali, Adana, Turkey
    Clin Nephrol 57:127-30. 2002
    Patients with sickle cell anemia have various forms of renal dysfunction.
  80. ncbi Stroke risk in siblings with sickle cell anemia
    M Catherine Driscoll
    Department of Pediatrics, The George Washington University School of Medicine, Washington, DC, USA
    Blood 101:2401-4. 2003
    Cerebrovascular disease is a common cause of morbidity in sickle cell anemia (HbSS): approximately 10% of patients have a clinical stroke before 20 years of age, and another 22% have silent infarction on magnetic resonance imaging...
  81. ncbi Acquisition of mutans streptococci and caries prevalence in pediatric sickle cell anemia patients receiving long-term antibiotic therapy
    James T Fukuda
    Children s Hospital Boston, USA
    Pediatr Dent 27:186-90. 2005
    ..The purpose of this study was to: (1) evaluate the prevalence of mutans streptococci (MS) and dental caries in sickle cell anemia (SCA) patients receiving long-term prophylactic penicillin therapy; and (2) determine changes in MS ..
  82. ncbi Short stature in children with sickle cell anemia correlates with alterations in the IGF-I axis
    Paulo F Collett-Solberg
    Rio de Janeiro, Brazil, Department ofPediatrics, Duke University Medical Center, Durham, NC, USA
    J Pediatr Endocrinol Metab 20:211-8. 2007
    Children with sickle cell anemia (SCA) frequently have short stature. We propose that alterations in the IGF-I axis are involved in their growth failure...
  83. ncbi [Hamartoma of the spleen (splenoma) in a child with sickle cell anemia]
    Amal Benkirane
    Anatomie et Cytologie Pathologiques, Hopital Robert Debre, 48, Boulevard Sérurier 75019 Paris
    Ann Pathol 27:27-30. 2007
    ..We report a case of an 11-year-old girl with sickle cell anemia who had a single splenic 1...
  84. pmc Maximising recruitment and retention of general practices in clinical trials: a case study
    Elizabeth Dormandy
    Department of Clinical Genetics, King s College London, London, UK
    Br J Gen Pract 58:759-66, i-ii. 2008
    ..There is limited evidence regarding the factors that facilitate recruitment and retention of general practices in clinical trials. It is therefore pertinent to consider the factors that facilitate research in primary care...
  85. doi β-globin gene cluster haplotypes in a cohort of 221 children with sickle cell anemia or Sβ⁰-thalassemia and their association with clinical and hematological features
    André Rolim Belisário
    Department of Pediatrics, Medical School NUPAD, Federal University of Minas Gerais UFMG, Belo Horizonte, Brazil
    Acta Haematol 124:162-70. 2010
    S)-Haplotype prevalence and its associations with clinical and hematological characteristics were assessed in Brazilian children with sickle cell anemia or Sβ⁰-thalassemia.
  86. ncbi UGT1A1 variation and gallstone formation in sickle cell disease
    Eden V Haverfield
    Institute of Biological Anthropology and the Weatherall Institute of Molecular Medicine, University of Oxford, United Kingdom
    Blood 105:968-72. 2005
    ..Although further studies of the pathogenesis of gallstones in SS disease are required, the (TA)(7)/(TA)(7) genotype may be a risk factor for symptomatic gallstones in older people with SS disease...
  87. ncbi Three decades of innovation in the management of sickle cell disease: the road to understanding the sickle cell disease clinical phenotype
    Duane Robina Bonds
    Blood Diseases Program, Division of Blood Diseases and Resources, National Heart, Lung, and Blood Institute, 6701 Rockledge Drive, MSC 7950, Bethesda, MD 20892 7950, USA
    Blood Rev 19:99-110. 2005
    ..These clinical studies have paved the way to our understanding the severe phenotype that will ultimately allow aggressive therapies to be targeted to patients at high risk for a morbid outcome...
  88. ncbi [The importance of genetic counseling at sickle cell anemia]
    Cínthia Tavares Leal Guimarães
    Departamento de Biologia Médica, Laboratório Central de Saúde Pública, Palmas, TO, Brazil
    Cien Saude Colet 15:1733-40. 2010
    ..can contribute for the occurrence or risk of recurrence of genetic illnesses, as it is the case of the sickle cell anemia. This type of anemia is the most prevalence hereditary illness in Brazil and has clinical complications that ..
  89. ncbi Adenotonsillar hypertrophy: a precipitating factor of cerebrovascular accident in a child with sickle cell anemia
    Y A Wali
    Department of Child Health, Sultan Qaboos University, Sultanate of Oman
    J Trop Pediatr 46:246-8. 2000
    Cerebrovascular accident is one of the most serious complications of sickle cell anemia. The specific factors that predispose patients with sickle cell anemia to stroke are increased disease severity, higher baseline white blood cell ..
  90. ncbi Determinants of red cell survival and erythropoietic activity in patients with sickle cell anemia in the steady state
    S K Ballas
    Cardeza Foundation for Hematologic Research, Department of Medicine Jefferson Medical College, Philadelphia, PA 19107, USA
    Hemoglobin 24:277-86. 2000
    We have studied 26 patients with sickle cell anemia to determine the factors that affect red blood cell (RBC) survival and other parameters of erythropoietic activity in the steady state...
  91. doi On the road to gene therapy for beta-thalassemia and sickle cell anemia
    Arthur Bank
    Columbia University, New York, New York 10032, USA
    Pediatr Hematol Oncol 25:1-4. 2008
    ..Human globin gene therapy is a potential cure for sickle cell disease and beta-thalassemia (Cooley anemia). A clinical trial of this treatment is currently under way in Paris using lentiglobin vectors...
  92. ncbi Blood antioxidant parameters in sickle cell anemia patients in steady state
    Vanusa Manfredini
    Laboratório de Estresse Oxidativo, Departamento de Biofíisica IB, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
    J Natl Med Assoc 100:897-902. 2008
    b>Sickle cell anemia (SCA) is a hereditary disorder with higher potential for oxidative damage due to chronic redox imbalance in red cells...
  93. ncbi Cardiopulmonary responses to exercise in women with sickle cell anemia
    Leigh A Callahan
    Pulmonary and Critical Care Unit, Department of Medicine, University of Rochester Medical Center, Rochester, New York 14642 8692, USA
    Am J Respir Crit Care Med 165:1309-16. 2002
    Multiple factors contribute to exercise intolerance in patients with sickle cell anemia, but little information exists regarding the safety of maximal cardiopulmonary exercise testing (CPET) or the mechanisms of exercise limitation in ..
  94. ncbi Search for improved therapy of sickle cell anemia
    David G Nathan
    J Pediatr Hematol Oncol 24:700-3. 2002
  95. ncbi Barriers to adherence of deferoxamine usage in sickle cell disease
    Marsha J Treadwell
    Children s Hospital and Research Center at Oakland, Oakland, California 94609, USA
    Pediatr Blood Cancer 44:500-7. 2005
    ..We explored the influences on adherence of behavioral and psychological adjustment; family stress; perceived convenience of and satisfaction with the DFO regimen; and parent and patient knowledge about DFO...
  96. doi UGT1A1 promoter polymorphisms and the development of hyperbilirubinemia and gallbladder disease in children with sickle cell anemia
    Shannon L Carpenter
    Division of Hematology Oncology, Department of Pediatrics, University of Texas Health Science Center, San Antonio, Texas 78207, USA
    Am J Hematol 83:800-3. 2008
    Genetic modifiers contribute to phenotypic variability in patients with sickle cell anemia (SCA)...
  97. ncbi Fourier analysis reveals increased trabecular spacing in sickle cell anemia
    T D Faber
    Section of Oral and Maxillofacial Radiology, UCLA School of Dentistry, Los Angeles, CA 90095 1668, USA
    J Dent Res 81:214-8. 2002
    b>Sickle cell anemia may expand marrow spaces in the jaws. Fourier analysis is well-suited to the analysis of trabecular spacing in radiographs...
  98. pmc Dysregulated arginine metabolism, hemolysis-associated pulmonary hypertension, and mortality in sickle cell disease
    Claudia R Morris
    Department of Emergency Medicine, Children s Hospital and Research Center at Oakland, CA 94609, USA
    JAMA 294:81-90. 2005
    ..We hypothesized that increased arginase activity and dysregulated arginine metabolism contribute to endothelial dysfunction, pulmonary hypertension, and patient outcomes...
  99. ncbi UGT1A1 polymorphism outweighs the modest effect of deletional (-3.7 kb) alpha-thalassemia on cholelithogenesis in sickle cell anemia
    Vicky Chaar
    UMR S 458 INSERM Université des Antilles et de la Guyane, CHU de Pointe a Pitre, Guadeloupe, French West Indies
    Am J Hematol 81:377-9. 2006
    Enhanced erythrocyte destruction in sickle cell anemia results in chronic hyperbilirubinemia. Only a subset of patients develop cholelithiasis...
  100. ncbi Genitourinary complications of sickle cell disease
    D Bruno
    Division of Urologic Surgery, Department of Surgery, Duke University Medical Center, Durham, NC, USA
    J Urol 166:803-11. 2001
    ..New forms of therapy for sickle cell disease, such as hydroxyurea, may prevent these complications in the future...
  101. ncbi Diastolic dysfunction and pulmonary hypertension in sickle cell anemia: is there a role for L-carnitine treatment?
    A el-Beshlawy
    Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt
    Acta Haematol 115:91-6. 2006
    ..Therefore, L-carnitine deserves a rigorous large-scale randomized clinical trial to evaluate its potential benefits as treatment for SCD patients with cardiac complications...

Research Grants82

  1. Enrico M Novelli; Fiscal Year: 2016
    ..in the Tenure Stream in the Department of Medicine and Director of the University of Pittsburgh Adult Sickle Cell Anemia Program. Dr...
  2. Role of murine induced pluripotent stem cells on the correction of cardiac and sk
    Diego Fraidenraich; Fiscal Year: 2010
    ..In addition, a recent proof-of-principle experiment showed that iPS cells can correct disease (sickle cell anemia) in mice...
  3. Non-viral gene therapy for sickle cell anemia
    CLIFFORD JOHN STEER; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Sickle cell anemia (SCA) is one of the most common inherited hematological diseases, and caused by a single amino acid substitution in the 2-globin chain of hemoglobin (Hb)...
  4. Punam Malik; Fiscal Year: 2016
    Project Summary Pulmonary hypertension (PHT) occurs in ~30% of patients with sickle cell anemia (SCA) and results in ~50% mortality within 2 years of diagnosis...
  5. Transplantation tolerance and immune function following mTOR inhibition.
    Jonathan D Powell; Fiscal Year: 2013
    ..transplant offers a safe, potentially curative treatment for non-malignant hematological diseases such as sickle cell anemia. Unfortunately, successful nonmyeloablative transplant to treat sickle cell anemia has been limited due to ..
  6. Functional analysis of mDia formins in hematopoietic stem cell engraftment and mi
    Peng Ji; Fiscal Year: 2010
    ..strategy for treating patients with many blood related diseases such as aplastic anemia, fanconi anemia, sickle cell anemia, beta thalassemia major, leukemia, lymphomas, multiple myeloma, and many immune deficiency disorders...
  7. Globin Gene Expression during Erythroid Differentiation
    Gordon D Ginder; Fiscal Year: 2010
    ..targets for safe therapeutic activation of fetal/embryonic globin gene expression in ?-thalassemia and sickle cell anemia. This objective will be pursued through the following specific aims: 1) To characterize the protein ..
  8. Effect of Diet on Inflammation in Sicke Cell Mice
    Jacqueline M Hibbert; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): Characteristic chronic hemolysis in sickle cell anemia is presumed to induce an inflammatory response through sub-clinical vasooclusion...
  9. Beta-Globin Gene Correction Using Peptide Nucleic Acids for the Treatment of Sick
    GERALD FRANCIS VOVIS; Fiscal Year: 2010
    ..PUBLIC HEALTH RELEVANCE: Sickle cell disease (SCD), also called sickle cell anemia, is among the most common human genetic disorders and is the result of one specific inherited mutation in ..
  10. JULIE ANNE BASTARACHE; Fiscal Year: 2014
    ..of circulating free hemoglobin have been found to be the primary cause of pulmonary arterial hypertension in sickle cell anemia and have been linked to poor clinical outcomes in other patient populations including our own preliminary ..
  11. A Comparative Approach to Globin Regulation/Thalassemia
    LEONARD IRA ZON; Fiscal Year: 2012
    ..of chromatin factors that affect hemoglobin production will have a tremendous impact on our understanding of hemoglobin production and for the treatment of patients with thalassemia, sickle cell anemia, and globin mutations.
  12. Protein biomarkers of pulmonary hypertension in sickle cell disease
    Mark E McComb; Fiscal Year: 2013
    ..regurgitant jet velocity (TRV), suggestive of pulmonary hypertension (PH) occurs in up to 1/3 of adults with sickle cell anemia (HbSS) and carries with it a 6-10-fold increased mortality risk...
  13. Development of Cytokine-Inhibiting Gels for Treating Chronic Wounds
    Newell R Washburn; Fiscal Year: 2010
    ..Washburn Therapeutics Inc. is developing a novel gel that inhibits the fundamental biochemical factors that sustain non-healing wounds and promotes healing. ..
  14. Peng Ji; Fiscal Year: 2014
    ..strategy for treating patients with many blood related diseases such as aplastic anemia, fanconi anemia, sickle cell anemia, beta thalassemia major, leukemia, lymphomas, multiple myeloma, and many immune deficiency disorders...
  15. Transfusion Induced BMT Rejection
    James C Zimring; Fiscal Year: 2013
    ..e. sickle cell anemia), as generating strategies to prevent RBC alloimmunization may allow successful implementation of BMT as a ..
  16. ROBERT IE LIEM; Fiscal Year: 2015
    ..the skills and experience necessary for becoming an independent clinical investigator in the areas of sickle cell anemia (SCA) and exercise physiology...
  17. Ameliorating Sickle Nephropathy and Pulmonary Hypertension
    Punam Malik; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): The kidney is affected in several different ways in sickle cell anemia (SCA)...
  18. Stuart H Orkin; Fiscal Year: 2015
    ..have a positive impact on the management ofthe major red cell disorders, ncluding the hemoglobin disorders (sickle cell anemia and p-thalassemia), as well as congenital and acquired anemias...
  19. Extending GWAS at the BCL11A locus to novel therapeutics for HbF induction
    Stuart H Orkin; Fiscal Year: 2010
    ..HbF is a known modifier of the severity of the major hemoglobin disorders, sickle cell anemia and beta-thalassemia. These diseases affect numerous individuals worldwide...
  20. Anindya Dutta; Fiscal Year: 2016
    ..treatment of cancers and of hematological diseases such as essential thrombocytopenia, polycythemia vera and sickle cell anemia. All these agents are believed to cause replication fork stalling leading to activation of checkpoint ..
  21. Thomas W Glover; Fiscal Year: 2016
    ..Moreover they will have important and immediate clinical significance to a large number of individuals with SCD and the future generations of HU-treated patients. ..
  22. Hematopoietic Stem Cell Development in Zebrafish
    YARIV J HOUVRAS; Fiscal Year: 2010
    ..These genes identified in this screen will offer valuable insights into the biology of stem cells, and will be useful as HSCs are used in transplantation for diseases such as sickle cell anemia and aplastic anemia.
  23. Training program in hematologic and oncologic diseases
    Yi Zheng; Fiscal Year: 2012
    ..variable immunodeficiency, molecular gene therapy strategies treating Fanconi anemia, storage diseases, and sickle cell anemia, and targeted therapies against childhood cancers such as leukemia/lymphoma, neuroblastoma, sarcomas, and ..
  24. Nitric oxide protects against microcirculatory complications of malaria
    LEONARDO JOSE DE MOURA CARVALHO; Fiscal Year: 2010
    ..of in vivo eNOS responses to free Hb or to low NO bioavailability that occurs during other diseases (sickle cell anemia) is currently lacking...
  25. Functional proteomics in differentiating erythroid cells
    IOANNIS JOHN STROUBOULIS; Fiscal Year: 2013
    ..Among the most prominent of ?-globin associated diseases are sickle cell anemia (SCA) and ?- thalassemias...
  26. Effects of developmental stage and of KLF2 on mouse erythroid genetic profiles
    Joyce A Lloyd; Fiscal Year: 2011
    ..This has clinical relevance for sickle cell anemia, which can be ameliorated by reactivation of a primitive erythroid program...
  27. Mitchell S Cairo; Fiscal Year: 2015
    ..abstract_text> ..
  28. Training: Hematology, Immunology &Stem Cell Biology
    Frans A Kuypers; Fiscal Year: 2011
    ..The research opportunities in areas funded by NIH at CHORI include: (1) clinical research in sickle cell anemia and thalassemia, (2) red cell membrane structure and function, (3) immunologic development and immune ..
  29. Donna S Neuberg; Fiscal Year: 2016
    ..We will study a drug called regadenoson in people with sickle cell disease to determine if it is an effective treatment for pain or acute chest syndrome episodes. ..
  30. Genetic Diversity of Sickle Cell Anemia
    Martin H Steinberg; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): Sickle cell anemia is a devastating disease affecting primarily African Americans...
  31. Targeted Correction of the Human Beta-globin Gene
    Peter M Glazer; Fiscal Year: 2010
    ..generating an optimized reagent set for molecular correction of mutations associated with thalassemia and sickle cell anemia. We will test promising TFOs or PNAs and donor DNA molecules for the ability to correct (3-globin mutations ..
  32. Matched and Haploidentical transplantation for Adults with Sickle Cell Anemia
    Neal Flomenberg; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): Abstract: Sickle Cell Anemia (SCA) has been successfully treated by allogeneic transplantation of normal blood forming stem cells to replace the patient's own marrow...
  33. Health and Biomedical Science for a Diverse Community, Phase II
    Bertram Lubin; Fiscal Year: 2009
    ..Fifth Grade: Unit 1. Nutrition: Diabetes;Unit 2. Asthma and Lung Disease;Unit 3. Heart Disease;and Unit 4. Sickle Cell Anemia and Genetics. Each unit consists of five one hour lessons...
  34. Impact of Blood Viscosity on Oxygen Delivery in humans with Sickle Cell Anemia
    THOMAS DUANE COATES; Fiscal Year: 2011
    ..Aim 3 will be done in collaboration with the randomized glutamine trial proposed in Project 2B (PI:Niihara). ..
  35. Stuart H Orkin; Fiscal Year: 2016
    ..development are fundamental to any efforts to design targeted therapy for the major hemoglobin disorders--sickle cell anemia and [unreadable]-thalassemia...
  36. Martin H Steinberg; Fiscal Year: 2015
    DESCRIPTION (provided by applicant): Sickle cell anemia, an orphan disease of African Americans, is noted for its extensive morbidity and high mortality. Only one FDA approved drug is available for its pathophysiologically-based treatment...
  37. Stroke with Transfusions Changing to Hydroxyurea
    Russell E Ware; Fiscal Year: 2010
    Stroke occurs in 10% of children with sickle cell anemia (SCA) and has a very high risk of recurrence without therapy...
  38. Jesse Rinehart; Fiscal Year: 2014
    ..and cell volume regulation in order to find new target points to treat diseases such as hypertension and sickle cell anemia. PUBLIC HEALTH RELEVANCE: The purpose of this study is to provide a fundamental understanding of the ..
  39. Russell E Ware; Fiscal Year: 2014
    ..primary stroke using Transcranial Doppler (TCD) ultrasonography has improved the care of young patients with sickle cell anemia. Children with an abnormal time-averaged mean velocity (TAMV), defined as e 200 cm/sec, have a 44-fold ..
  40. Nanoparticle delivery of triplex-forming PNAs for thalassemia gene therapy
    NICOLE MCNEER; Fiscal Year: 2013
    ..Inherited blood disorders such as [unreadable]-thalassemia and sickle cell anemia can potentially be treated or cured through genetic manipulation of hematopoietic stem and progenitor cells (..
  41. Asthma and Nocturnal Hypoxemia in Sickle Cell Anemia II
    Robert Strunk; Fiscal Year: 2013
    ..The overall goal of this applications is to identify the laboratory and clinical determinants of how lung disease progresses from normal in early childhood to asthma and later to a severe lung disease that requires oxygen ..
  42. A Translational Approach to Heterogeneity of Pain in Pediatric Sickle Cell Anemia
    ALYSSA MARIE SCHLENZ; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Sickle cell anemia (SCA) is an inherited blood disorder characterized by intermittent vaso-occlusion...
  43. CityLab Promotes Understanding of Clinical Trials
    Carla A Romney; Fiscal Year: 2013
    ..This supplement teaches students about the point mutation that is responsible for sickle cell anemia and it does so by engaging students to perform hemoglobin electrophoresis...
  44. REGULATION AND FUNCTION OF A HUMAN EMBRYONIC GLOBIN
    J Eric Russell; Fiscal Year: 2012
    ..and the manner in which they can be manipulated to therapeutic advantage in patients with thalassemia and sickle cell anemia. PUBLIC HEALTH RELEVANCE: Despite recent improvements in clinical care, congenital genetic disorders ..
  45. TCD With Transfusions Changing to Hydroxyurea
    Russell E Ware; Fiscal Year: 2013
    ..We propose a Phase III randomized clinical trial for children with sickle cell anemia (SCA) and abnormal Transcranial Doppler (TCD) velocities, termed the "TCD With Transfusions Changing to ..
  46. Barry R Davis; Fiscal Year: 2014
    ..We propose a Phase III randomized clinical trial for children with sickle cell anemia (SCA) and abnormal Transcranial Doppler (TCD) velocities, termed the "TCD With Transfusions Changing to ..
  47. Peter G Vekilov; Fiscal Year: 2016
    ..We plan to disseminate our models, software tools, and experimental data including the general-purpose triple-decker algorithm, via web-based repositories, existing public open-ware sites, tutorials and through the MSM consortium. ..
  48. MRI-Based Method for Quantifying CMRO2 in Humans
    Felix W Wehrli; Fiscal Year: 2012
    ..as a result of either underoxygenation of the arterial supply or mutations of the hemoglobin gene as in sickle cell anemia. Specific Aims are: 1...
  49. Selective HDAC1/2 inhibitors for hemoglobinopathies
    Matthew B Jarpe; Fiscal Year: 2013
    ..Deacetylase 1 and 2 (HDAC1/2) inhibitor for the treatment of patients with the beta-hemoglobinopathies sickle cell anemia and beta- thalassemia...
  50. Stroke with Transfusions Changing to Hydroxyurea (SWITCH) Trial Data Coordinating
    Ronald W Helms; Fiscal Year: 2010
    Stroke occurs in 10% of children with sickle cell anemia (SCA) and has a very high risk of recurrence without therapy...
  51. Gerd A Blobel; Fiscal Year: 2016
    ..studies will examine whether reactivation of fetal hemoglobin via chromatin looping can ameliorate sickle cell anemia in a humanized mouse model...
  52. DON MICHAEL WOJCHOWSKI; Fiscal Year: 2016
    ..anemia as associated with cancer therapies, renal disease, aging, AIDS, and inherited RBC disorders (eg, sickle cell anemia)...
  53. LEONARD IRA ZON; Fiscal Year: 2016
    ..of the biology of regeneration and may define methods that could be used in the clinic for the expansion of stem and progenitor cells for marrow transplantation or therapies for blood disorders such as thalassemia or sickle cell anemia.
  54. Directed hematopoietic differentiation of human pluripotent stem cells
    Linzhao Cheng; Fiscal Year: 2013
    ..This study will also help us to establish a universal method to study dozens of other somatic blood diseases as well as inherited blood diseases such as sickle cell anemia.
  55. Nanomechanical effects of aldosterone on vaso-occulation in sickle cell disease
    Wilbur A Lam; Fiscal Year: 2013
    ..RELEVANCE (See instructions): By investigating whether the hormone aldosterone plays a role in sickle cell anemia, this work will improve our understanding of- and new treatments for-this complex and incurable disease...
  56. BIOMEDICAL (APPLIED/EXPLORATORY)
    JUDITH GWATHMEY; Fiscal Year: 2009
    ..cause of morbidity and mortality in patients with a variety of transfusion- dependant anemias, including sickle cell anemia and thalassemia major...
  57. Hydroxyurea Pharmacokinetics and Pharmacogenomics
    Russell E Ware; Fiscal Year: 2011
    The use of hydroxyurea for children and adults with sickle cell anemia (SCA) is increasing, but substantial inter-individual differences exist that limit its utility as a routine and effective therapeutic agent...
  58. Identification and functional analysis of renal stem cells
    Rosemary V Sampogna; Fiscal Year: 2011
    ..Moreover, diseases initially involving the renal papilla such as analgesic nephropathy and sickle cell anemia often lead to more global renal injury and can lead to end stage renal disease...
  59. Primary Prevention of Strokes in Nigerian Children with Sickle Cell Disease
    LORI CHAFFIN JORDAN; Fiscal Year: 2013
    ..placebo for primary prevention of strokes in Nigerian children with sickle cell anemia (SCA) in preparation for a NIH sponsored multicenter, phase III Trial...
  60. Regulation of Globin Gene Expression In Erythroid Differentiation &Development
    Gordon D Ginder; Fiscal Year: 2012
    ..selective molecular targets for safe therapeutic activation of fetal/embryonic globin gene expression in sickle cell anemia and beta-thalassemia...
  61. Twice-Weekly Subcutaneous Liposome Chelator to Treat Transfusional Iron Overload
    MARK EAMON HAYES; Fiscal Year: 2013
    ..by applicant): About 100,000 babies are born each year with severe thalassemia type blood disorders or sickle cell anemia, leading to a lifelong regime of blood transfusions...
  62. Paola Sebastiani; Fiscal Year: 2014
    ..Supported by the NIH/NHLBIR01 HL87681-01, "Genome-Wide Association Studies in Sickle Cell Anemia and in Centenarians", we introduced a novel Bayesian approach to estimate the genetic predisposition to ..
  63. Intracelllar Pathways That Silence the Fetal Globin Gene
    Tohru Ikuta; Fiscal Year: 2006
    ..Hydroxyurea (HU) is being used for treating sickle cell anemia (SCA), but the magnitude of response to HU significantly varies between SCA patients...
  64. ORAL L GLUTAMINE THERAPY FOR SICKLE CELL ANEMIA
    Yutaka Niihara; Fiscal Year: 2001
    DESCRIPTION: Sickle cell anemia is one of the most common and devastating hereditary disorders with significant morbidity and mortality affecting individuals of African American heritage. No safe, effective therapy is yet available...
  65. Determinants of HbF Response to Hydroxyurea
    Martin Steinberg; Fiscal Year: 2005
    ..HbF) inhibits the polymerization of HbS and is therefore an important modulator of the phenotype of sickle cell anemia. In this disease, HbF concentrations span two orders of magnitude...
  66. COGNITIVE AND NEUROIMAGING STUDY OF SICKLE CELL ANEMIA
    Elias Melhem; Fiscal Year: 2001
    ..The latter in combination with TCD studies will also elucidate the relationship between proximal characteristics observed by TCD and true end organ perfusion outlined by MR. ..
  67. HEMORHEOLOGY IN SICKLE CELL ANEMIA AND RELATED DISORDERS
    HERBERT MEISELMAN; Fiscal Year: 1993
    ..is a better comprehension of the physiological significance of rheological and biophysical changes in sickle cell anemia and its variants...
  68. GLOBIN GENE TRANSFER FOR THERAPY OF SICKLE CELL ANEMIA
    Michel Sadelain; Fiscal Year: 2004
    DESCRIPTION (Applicant's Description Verbatim): Sickle cell anemia is one of the commonest inherited diseases in humans, characterized by a severe chronic hemolytic anemia with an unpredictable course...
  69. STROKE PREVENTION TRIAL IN SICKLE CELL ANEMIA (STOP)
    Robert Adams; Fiscal Year: 2000
    ..Secondary aims may further understanding of the effects of transfusion on the brain and guide future research into the cause(s) of cerebrovascular involvement in Hb SS. ..
  70. STROKE PREVENTION TRIAL IN SICKLE CELL ANEMIA
    Donald Brambilla; Fiscal Year: 2000
    ..Secondary aims may further understanding of the effects of transfusion on the brain and guide future research into the cause(s) of cerebrovascular involvement in Hb SS. ..
  71. UMBILICAL CORD BLOOD BANK FOR HEMOGLOBINOPATHY PATIENTS
    Bertram Lubin; Fiscal Year: 2001
    During the past decade, a number of advances have been made in the treatment or patients sickle cell anemia and thalassemia...
  72. Biomakers in Sickle Cell Anemia: Response to Hydroxyurea
    Marie Stuart; Fiscal Year: 2004
    ..In addition, findings from this study could have significant implications for other disease states associated with vasculopathy. ..
  73. Genetic Modifiers in Children with Sickle Cell Anemia
    Russell Ware; Fiscal Year: 2005
    DESCRIPTION (provided by applicant) The beta6 (Glu toVal) mutation in the beta globin gene that leads to sickle cell anemia (SCA) has been known for many years, and the biophysical characteristics of intracellular sickling are well ..
  74. Chemical Pathology of 5-aza-2'-deoxycytidine
    Lawrence Sowers; Fiscal Year: 2007
    ..The nucleoside analogue, 5-aza-2'-deoxycytidine (DAC) is an investigational agent for the treatment of sickle cell anemia as well as advanced human malignancies...
  75. ABNORMAL HEMOGLOBIN SYNTHESIS--MECHANISM AND DETECTION
    YUET KAN; Fiscal Year: 2001
    ..This proposal is a continuation of studies on normal and abnormal synthesis in hemoglobinopathies in sickle cell anemia and thalassemia...
  76. Molecular Physiology of Renal K-Cl Cotransporters
    David Mount; Fiscal Year: 2007
    ..of disorders as diverse as hypertension, epilepsy, renal tubular acidosis, neuropathic pain, and sickle cell anemia. In the renal proximal tubule, isotonic swelling induced by apical Na absorption activates basolateral K+ -..