David H K Chui

Summary

Affiliation: Boston University School of Medicine
Country: USA

Publications

  1. pmc Imputation of missing genotypes: an empirical evaluation of IMPUTE
    Zhenming Zhao
    Department of Biostatistics, Boston University School of Public Health, 801 Massachusetts Avenue, Boston MA 02118, USA
    BMC Genet 9:85. 2008
  2. ncbi request reprint Alpha-thalassemia: Hb H disease and Hb Barts hydrops fetalis
    David H K Chui
    Department of Medicine and Pathology, Boston University School of Medicine, 88 East Newton Street, Boston, MA 02118, USA
    Ann N Y Acad Sci 1054:25-32. 2005
  3. ncbi request reprint Alpha-thalassaemia and population health in Southeast Asia
    David H K Chui
    Department of Medicine, Boston University School of Medicine, Boston, Massachusetts 02118, USA
    Ann Hum Biol 32:123-30. 2005
  4. doi request reprint Fetal hemoglobin in sickle cell anemia: a glass half full?
    Martin H Steinberg
    Center of Excellence in Sickle Cell Disease, Department of Medicine, Boston University School of Medicine, Boston, MA
    Blood 123:481-5. 2014
  5. pmc Fetal hemoglobin in sickle cell anemia: molecular characterization of the unusually high fetal hemoglobin phenotype in African Americans
    Idowu Akinsheye
    Division of Hematology Oncology, Department of Medicine, Boston University School of Medicine, Boston, MA, USA
    Am J Hematol 87:217-9. 2012
  6. pmc A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression
    John J Farrell
    Department of Medicine, Boston University School of Medicine, Boston, MA, USA
    Blood 117:4935-45. 2011
  7. pmc BCL11A is a major HbF quantitative trait locus in three different populations with beta-hemoglobinopathies
    Amanda E Sedgewick
    Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts 02118, USA
    Blood Cells Mol Dis 41:255-8. 2008
  8. pmc Fetal hemoglobin in sickle cell anemia: genetic studies of the Arab-Indian haplotype
    Duyen Ngo
    Center of Excellence in Sickle Cell Disease, Department of Medicine, Boston University School of Medicine, Boston, MA, USA
    Blood Cells Mol Dis 51:22-6. 2013
  9. ncbi request reprint Sickle cell disease caused by Hb S/Québec-CHORI: treatment with hydroxyurea and response
    Venée N Tubman
    Department of Medicine, Children s Hospital Boston, Boston, Massachusetts 02115, USA
    Pediatr Blood Cancer 49:207-10. 2007
  10. ncbi request reprint Sickle cell disease due to compound heterozygosity for Hb S and a novel 7.7-kb beta-globin gene deletion
    B Anders R Andersson
    Hemoglobin Diagnostic Reference Laboratory, Boston Medical Center, Boston, MA 02118, USA
    Eur J Haematol 78:82-5. 2007

Collaborators

Detail Information

Publications55

  1. pmc Imputation of missing genotypes: an empirical evaluation of IMPUTE
    Zhenming Zhao
    Department of Biostatistics, Boston University School of Public Health, 801 Massachusetts Avenue, Boston MA 02118, USA
    BMC Genet 9:85. 2008
    ....
  2. ncbi request reprint Alpha-thalassemia: Hb H disease and Hb Barts hydrops fetalis
    David H K Chui
    Department of Medicine and Pathology, Boston University School of Medicine, 88 East Newton Street, Boston, MA 02118, USA
    Ann N Y Acad Sci 1054:25-32. 2005
    ..These findings underscore the public health importance of these hereditary disorders, and they call for better education, diagnosis, treatment, prevention, and research for these diseases...
  3. ncbi request reprint Alpha-thalassaemia and population health in Southeast Asia
    David H K Chui
    Department of Medicine, Boston University School of Medicine, Boston, Massachusetts 02118, USA
    Ann Hum Biol 32:123-30. 2005
    ..Several practical proposals are made that, if implemented, can begin to address the issues of collaboration and improvement for care of these common diseases in the region...
  4. doi request reprint Fetal hemoglobin in sickle cell anemia: a glass half full?
    Martin H Steinberg
    Center of Excellence in Sickle Cell Disease, Department of Medicine, Boston University School of Medicine, Boston, MA
    Blood 123:481-5. 2014
    ....
  5. pmc Fetal hemoglobin in sickle cell anemia: molecular characterization of the unusually high fetal hemoglobin phenotype in African Americans
    Idowu Akinsheye
    Division of Hematology Oncology, Department of Medicine, Boston University School of Medicine, Boston, MA, USA
    Am J Hematol 87:217-9. 2012
    ..Thirty-eight SNPs were found. Four SNPs had significantly higher major allele frequencies in the unusually high HbF group. In silico analyses of these four polymorphisms predicted alteration in transcription factor binding sites in 3...
  6. pmc A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression
    John J Farrell
    Department of Medicine, Boston University School of Medicine, Boston, MA, USA
    Blood 117:4935-45. 2011
    ..This 3-bp deletion polymorphism is probably the most significant functional motif accounting for HMIP modulation of HbF in all 3 populations...
  7. pmc BCL11A is a major HbF quantitative trait locus in three different populations with beta-hemoglobinopathies
    Amanda E Sedgewick
    Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts 02118, USA
    Blood Cells Mol Dis 41:255-8. 2008
    ..Taken together, the data suggest that the functional motifs responsible for modulating F-cells and HbF levels reside within a 3 kb region in the second intron of BCL11A...
  8. pmc Fetal hemoglobin in sickle cell anemia: genetic studies of the Arab-Indian haplotype
    Duyen Ngo
    Center of Excellence in Sickle Cell Disease, Department of Medicine, Boston University School of Medicine, Boston, MA, USA
    Blood Cells Mol Dis 51:22-6. 2013
    ..These regulatory elements, which remain to be discovered, might be specific in the Saudi and some other populations where HbF levels are especially high...
  9. ncbi request reprint Sickle cell disease caused by Hb S/Québec-CHORI: treatment with hydroxyurea and response
    Venée N Tubman
    Department of Medicine, Children s Hospital Boston, Boston, Massachusetts 02115, USA
    Pediatr Blood Cancer 49:207-10. 2007
    ..g., Hb SC, HbSO(Arab)). The authors report a second case of HbS/Québec-CHORI, a severe compound heterozygous sickling disorder and their experience managing this patient with hydroxyurea...
  10. ncbi request reprint Sickle cell disease due to compound heterozygosity for Hb S and a novel 7.7-kb beta-globin gene deletion
    B Anders R Andersson
    Hemoglobin Diagnostic Reference Laboratory, Boston Medical Center, Boston, MA 02118, USA
    Eur J Haematol 78:82-5. 2007
    ..This is the second known deletion that removes the 3'-end but preserves the integrity of the 5'-end of the beta-globin gene. Furthermore, the identification of the deletion allows proper genetic counseling for affected families...
  11. ncbi request reprint Hemoglobinopathies mimicking Hb S/beta-thalassemia: Hb S/S with alpha-thalassemia and Hb S/Volga
    Hong Yuan Luo
    Hemoglobin Diagnostic Reference Laboratory, Boston Medical Center, Boston, Massachusetts 02118, USA
    Am J Hematol 81:361-5. 2006
    ..These studies underscore the importance to correlate clinical course with laboratory diagnosis and to make DNA-based diagnostics more widely available for patients with unusual or complicated hemoglobin disorders...
  12. doi request reprint Severe fetal and neonatal hemolytic anemia due to a 198 kb deletion removing the complete β-globin gene cluster
    Madeleine Verhovsek
    Hematology Oncology, Department of Medicine, Boston University School of Medicine, Boston, MA, USA
    Pediatr Blood Cancer 59:941-4. 2012
    ..The proband had life-threatening fetal and neonatal hemolytic anemia which subsided by 1 year of age...
  13. doi request reprint Fetal haemoglobin levels and haematological characteristics of compound heterozygotes for haemoglobin S and deletional hereditary persistence of fetal haemoglobin
    Duyen A Ngo
    Department of Medicine, Boston University School of Medicine, Boston, MA 02118, USA
    Br J Haematol 156:259-64. 2012
    ..Despite having a much higher HbF level, patients with HbS-HPFH have a similar age-related pattern of HbF decline and associations as patients with sickle cell anaemia or HbS-β(0) thalassaemia...
  14. doi request reprint BCL11A represses HBG transcription in K562 cells
    Zhiyi Chen
    Center of Excellence in Sickle Cell Disease, Division of Hematology Oncology, Department of Medicine, Boston University School of Medicine, Boston, MA 02118, USA
    Blood Cells Mol Dis 42:144-9. 2009
    ....
  15. ncbi request reprint Two new alpha-thalassemia frameshift mutations
    Hong Yuang Luo
    Hemoglobin Diagnostic Reference Laboratory, Boston Medical Center, Boston, Massachusetts 02118, USA
    Hemoglobin 31:135-9. 2007
    ....
  16. ncbi request reprint Erratum to: unexpectedly low pulse oximetry measurements associated with variant hemoglobins: a systematic review
    Madeleine Verhovsek
    Section of Hematology and Oncology, Department of Medicine, Boston University School of Medicine, Boston, Massachusetts 02118, USA
    Am J Hematol 86:722-5. 2011
    ..The correct diagnosis will help to spare patients from unnecessary investigations and anxiety...
  17. pmc A T-to-G transversion at nucleotide -567 upstream of HBG2 in a GATA-1 binding motif is associated with elevated hemoglobin F
    Zhiyi Chen
    Center of Excellence in Sickle Cell Disease, Division of Hematology Oncology, Department of Medicine, Boston University School of Medicine, Boston, Massachusetts 02118, USA
    Mol Cell Biol 28:4386-93. 2008
    ..The T-to-G mutation in this motif disrupts GATA-1 binding and the associated repressor complex, abolishing its silencing effect and resulting in the up-regulation of gamma-globin gene expression in adults...
  18. ncbi request reprint Beta-thalassemia intermedia due to compound heterozygosity for two beta-globin gene promoter mutations, including a novel TATA box deletion
    Raveen K Basran
    Hemoglobin Diagnostic Reference Laboratory, Boston Medical Center, Boston, Massachusetts, USA
    Pediatr Blood Cancer 50:363-6. 2008
    ..His mother and 14-year-old brother were simple heterozygotes for this novel (AA) deletion. Both heterozygotes had normal Hb level, borderline microcytosis, and elevated Hb A(2)...
  19. pmc Therapeutic fetal-globin inducers reduce transcriptional repression in hemoglobinopathy erythroid progenitors through distinct mechanisms
    Yan Dai
    Hemoglobinopathy Thalassemia Research Unit and Cancer Center, Boston University School of Medicine, Boston, MA, United States
    Blood Cells Mol Dis 56:62-9. 2016
    ..7-fold. These findings identify clinical-stage oral therapeutics which inhibit or displace major co-repressors of γ-globin gene transcription and may suggest a rationale for combination therapy to produce enhanced efficacy. ..
  20. ncbi request reprint Hb Hope [beta136(H14)Gly-->Asp (GGT-->GAT)]: interactions with Hb S [beta6(A3)Glu-->Val (GAG-->GTG)], other variant hemoglobins and thalassemia
    John Ingle
    Department of Medicine and Pathology, Division of Hematology Oncology, Boston University School of Medicine, Boston, Massachusetts, USA
    Hemoglobin 28:277-85. 2004
    ..DNA-based diagnostics can help solve this potential problem...
  21. ncbi request reprint Hemoglobin SE disease: a concise review
    David Masiello
    The Center of Excellence in Sickle Cell Disease, Department of Medicine, School of Medicine, Boston University, Boston, MA, USA
    Am J Hematol 82:643-9. 2007
    ..Patients with Hb SE disease should be followed and managed in a similar fashion as those with Hb S/beta(+)-thalassemia, and treated appropriately when they develop sickling-related symptoms and complications...
  22. pmc Fetal globin gene inducers: novel agents and new potential
    Susan P Perrine
    Cancer Center and Hemoglobinopathy Thalassemia Research Unit, Department of Medicine, Pediatrics, Pharmacology and Experimental Therapeutics, Boston University School of Medicine, Boston, Massachusetts, USA
    Ann N Y Acad Sci 1202:158-64. 2010
    ..These refinements offer renewed potential to apply fetal globin induction as a treatment approach in patient-friendly regimens that can be used worldwide...
  23. doi request reprint Unexpectedly low pulse oximetry measurements associated with variant hemoglobins: a systematic review
    Madeleine Verhovsek
    Section of Hematology and Oncology, Department of Medicine, Boston University School of Medicine, Boston, MA 02118, USA
    Am J Hematol 85:882-5. 2010
    ..The correct diagnosis will help to spare patients from unnecessary investigations and anxiety...
  24. pmc Fetal hemoglobin in sickle cell anemia
    Idowu Akinsheye
    Department of Medicine, Boston University School of Medicine, Boston, MA, USA
    Blood 118:19-27. 2011
    ..Recent insights into HbF regulation have spurred new efforts to induce high HbF levels in sickle cell disease beyond those achievable with the current limited repertory of HbF inducers...
  25. doi request reprint Hemoglobin Kenya composed of alpha- and ((A)gammabeta)-fusion-globin chains, associated with hereditary persistence of fetal hemoglobin
    Ibifiri Wilcox
    Hemoglobin Diagnostic Reference Laboratory, Boston Medical Center, Boston, MA 02118, USA
    Am J Hematol 84:55-8. 2009
    ..Definitive diagnosis that is necessary for proper patient management is best done by DNA-based gap-PCR tests...
  26. doi request reprint Variation and heritability of Hb F and F-cells among beta-thalassemia heterozygotes in Hong Kong
    Geoffrey T Gibney
    Division of Hematology Oncology, Department of Medicine, Boston University, Boston, Massachusetts02118, USA
    Am J Hematol 83:458-64. 2008
    ....
  27. doi request reprint A Comprehensive, Ethnically Diverse Library of Sickle Cell Disease-Specific Induced Pluripotent Stem Cells
    Seonmi Park
    Department of Medicine, Center for Regenerative Medicine CReM, Boston University School of Medicine, 670 Albany Street, 2nd Floor, Boston, MA 02118, USA Section of Gastroenterology, Department of Medicine, Boston University School of Medicine, Boston, MA 02118, USA
    Stem Cell Reports . 2017
    ..As a complement to this library, and as proof of principle for future cell- and gene-based therapies, we also designed and employed CRISPR/Cas gene editing tools to correct the sickle hemoglobin (HbS) mutation...
  28. doi request reprint Hereditary Persistence of Fetal Hemoglobin Caused by Single Nucleotide Promoter Mutations in Sickle Cell Trait and Hb SC Disease
    Anthony O Akinbami
    a Department of Medicine, Boston University School of Medicine, Boston, Massachusetts, USA
    Hemoglobin 40:64-5. 2016
    ..0% Hb S, 18.0% Hb C and 25.0% Hb F; a child heterozygous for Hb S and HPFH due to mutations in both the (A)γ- and (G)γ-globin gene promoters in cis [(G)γ(A)γ(β(+)) HPFH], with 67.0% Hb A, 6.5% Hb S and 25.0% Hb F. ..
  29. doi request reprint The genetic basis of asymptomatic codon 8 frame-shift (HBB:c25_26delAA) β(0) -thalassaemia homozygotes
    Zhihua Jiang
    Departments of Medicine, Pathology and Laboratory Medicine, Boston University School of Medicine, Boston, MA, USA
    Br J Haematol 172:958-65. 2016
    ..Further studies are needed to uncover likely additional genetic variants that could contribute to the exceptionally high HbF levels and mild phenotype in these twins. ..
  30. doi request reprint Hb Youngstown [β101(G3)Glu → Ala; HBB: c.305A > C]: An unstable hemoglobin variant causing severe hemolytic anemia
    Heather L Edward
    Departments of Medicine, and Pathology and Laboratory Medicine, Division of Hematology Oncology, Boston University School of Medicine, Boston, Massachusetts, USA
    Hemoglobin 38:381-4. 2014
    ....
  31. doi request reprint Novel dominant β-thalassemia: Hb Boston-Kuwait [codon 139/140(+T)]
    Stacy E Croteau
    Dana Farber Boston Children s Cancer and Blood Disorders Center, Boston, MA, USA
    Pediatr Blood Cancer 60:E131-4. 2013
    ..Hematopoietic stem cell transplant provided a successful alternative therapy for this severe form of dominant β-thalassemia...
  32. pmc MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis
    Chunming Ding
    Bioinformatics Program and Center for Advanced Biotechnology, Boston University, Boston, MA 02215, USA
    Proc Natl Acad Sci U S A 101:10762-7. 2004
    ..This analytical approach also will have implications for many other applications of circulating nucleic acids in areas such as oncology and transplantation...
  33. pmc A candidate transacting modulator of fetal hemoglobin gene expression in the Arab-Indian haplotype of sickle cell anemia
    Vinod Vathipadiekal
    Department of Medicine, Boston University School of Medicine, Boston, Massachusetts
    Am J Hematol 91:1118-1122. 2016
    ..Am. J. Hematol. 91:1118-1122, 2016. © 2016 Wiley Periodicals, Inc...
  34. doi request reprint Diverse hematological phenotypes of β-thalassemia carriers
    Hong Yuan Luo
    Departments of Medicine, Pathology, and Laboratory Medicine, Boston University School of Medicine, Boston, Massachusetts
    Ann N Y Acad Sci 1368:49-55. 2016
    ..Recognition of the specific abnormality and correct diagnosis can allay anxiety and unnecessary investigation, help formulate treatment programs, and deliver appropriate genetic and family counseling. ..
  35. pmc The aryl hydrocarbon receptor directs hematopoietic progenitor cell expansion and differentiation
    Brenden W Smith
    Section of Hematology and Oncology, Department of Medicine, Boston University School of Medicine, Boston, MA 02118, USA
    Blood 122:376-85. 2013
    ....
  36. ncbi request reprint Hemoglobin Titusville, a low oxygen affinity variant hemoglobin, in a family of Northern European background
    Hong Yuan Luo
    Hemoglobin Diagnostic Reference Laboratory, Boston Medical Center, Boston, Massachusetts 02118, USA
    Am J Hematol 77:384-6. 2004
    ..Correct diagnosis is clinically important to spare affected individuals extensive investigations into other causes of low oxygen saturation in peripheral blood...
  37. ncbi request reprint A novel sickle hemoglobin: hemoglobin S-south end
    Hong Yuan Luo
    Hemoglobin Diagnostic Reference Laboratory, Boston Medical Center, Boston, Massachusetts, USA
    J Pediatr Hematol Oncol 26:773-6. 2004
    ..Furthermore, the variant hemoglobin mimics Hb A on high-pressure liquid chromatography, and its identity is not easily diagnosed. A succinct review of variant sickle hemoglobins is also presented...
  38. ncbi request reprint Routine screening of (--(SEA)) alpha-thalassemia deletion by an enzyme-linked immunosorbent assay for embryonic zeta-globin chains
    S K Ma
    Division of Hematology, Department of Pathology, University of Hong Kong, Queen Mary Hospital, Hong Kong, China
    Acta Haematol 108:8-12. 2002
    ..In areas with a high prevalence of alpha-thalassemia, improved detection of SEA deletion carriers would ultimately facilitate the identification of pregnancies at risk of hydrops fetalis and its prevention through prenatal diagnosis...
  39. ncbi request reprint Multiple minisequencing screen for seven southeast Asian nondeletional alpha-thalassemia mutations
    Wen Wang
    Departments of Pediatrics and Obstetrics and Gynecology, National University of Singapore 119074, Singapore
    Clin Chem 49:800-3. 2003
  40. ncbi request reprint Single-tube multiplex-PCR screen for anti-3.7 and anti-4.2 alpha-globin gene triplications
    Wen Wang
    Department of Pediatrics, National University of Singapore, Singapore 119074, Singapore
    Clin Chem 49:1679-82. 2003
  41. ncbi request reprint Beta-thalassemia in association with a new delta-chain hemoglobin variant [delta116(g18)Arg-->Leu]: implications for carrier screening and prenatal diagnosis
    John S Waye
    Hamilton Regional Laboratory Medicine Program, McMaster University Medical Centre, Hamilton, Ontario, Canada
    Am J Hematol 74:179-81. 2003
    ..This case illustrates the importance of comprehensive molecular analyses for accurate assessment of genetic risks for hemoglobinopathy syndromes...
  42. ncbi request reprint Prenatal diagnosis of hemoglobinopathies in Ontario, Canada
    Raveen K Basran
    Department of Pathology and Molecular Medicine, Faculty of Health Sciences, McMaster University Medical Centre, 1200 Main Street West, Hamilton, Ontario L8N 3Z5, Canada
    Ann N Y Acad Sci 1054:507-10. 2005
    ..Despite the availability of services for carrier screening, genetic counseling, and prenatal diagnosis, there has been only a modest reduction in the overall incidence of hemoglobinopathies in Ontario...
  43. ncbi request reprint Diagnostic pitfall in PCR-based alpha-thalassemia genotyping resulting from a (G->C) polymorphism at nucleotide 71 3' to the alpha2-globin gene termination codon
    Amy Yuk Yin Chan
    Clin Chem 52:536-7. 2006
  44. ncbi request reprint Simple non-invasive prenatal detection of Hb Bart's disease by analysis of fetal erythrocytes in maternal blood
    Elizabeth T Lau
    Prenatal Diagnostic and Counselling Department, Tsan Yuk Hospital, Hong Kong
    Prenat Diagn 25:123-8. 2005
    ..To investigate a simple non-invasive technique for early detection of Hemoglobin (Hb) Bart's disease...
  45. ncbi request reprint Dominant beta-thalassemia due to a newly identified frameshift mutation in exon 3 (codon 113, GTG-->Tg)
    John S Waye
    Provincial Hemoglobinopathy DNA Diagnostic Laboratory, Hamilton Regional Laboratory Medicine Program, Ontario, Canada
    Hemoglobin 26:83-6. 2002
  46. ncbi request reprint Identification of two new beta-thalassemia splice mutations: IVS-I-1 (G-->C) and IVS-I (-2) (A-->C)
    John S Waye
    Provincial Hemoglobinopathy DNA Diagnostic Laboratory, Hamilton Regional Laboratory Medicine Program, Ontario, Canada
    Hemoglobin 26:87-9. 2002
  47. ncbi request reprint Sequential analysis of alpha- and beta-globin gene expression during erythropoietic differentiation from primate embryonic stem cells
    Katsutsugu Umeda
    Department of Pediatrics, Graduate School of Medicine, Kyoto University, Shogoin, Sakyo ku, Kyoto 606 8507, Japan
    Stem Cells 24:2627-36. 2006
    ..Thus, this system reproduces early hematopoietic development in vitro and can serve as a model for analyzing the mechanisms of the globin switch in humans...
  48. pmc Screening and counseling for thalassemia
    David H K Chui
    Blood 107:1735-7. 2006
  49. pmc Patients with thalassemia in the United States
    Hong Yuan Luo
    Blood 105:4896-7. 2005
  50. ncbi request reprint HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server
    Ross C Hardison
    Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, Pennsylvania, USA
    Hum Mutat 19:225-33. 2002
    ..quot; This new database should be useful for clinical diagnosis as well as in fundamental studies of hemoglobin biochemistry, globin gene regulation, and human sequence variation at these loci...
  51. pmc Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies
    George P Patrinos
    MGC Department of Cell Biology and Genetics, Erasmus MC, Faculty of Medicine and Health Sciences, PO Box 1738, 3000 DR, Rotterdam, The Netherlands
    Nucleic Acids Res 32:D537-41. 2004
    ..It also expands the capacity to view and analyze the data, using tools within GALA and the University of California at Santa Cruz (UCSC) Genome Browser...
  52. ncbi request reprint Identification of a new hemoglobin variant: Hb St. Joseph's [beta77(EF1)His-->Leu]
    Margie Patterson
    Hamilton Regional Laboratory Medicine Program, Hamilton, Ontario, Canada
    Hemoglobin 27:181-3. 2003
  53. ncbi request reprint Hemoglobin H disease: not necessarily a benign disorder
    David H K Chui
    Department of Pathology and Molecular Medicine, McMaster University Faculty of Health Sciences, Hamilton, ON, Canada
    Blood 101:791-800. 2003
  54. ncbi request reprint Prenatal exclusion of beta thalassaemia major by examination of maternal plasma
    Rossa W K Chiu
    Department of Chemical Pathology, Chinese University of Hong Kong, Prince of Wales Hospital, Room 38023, 1 F Clinical Sciences Building, 30 32 Ngan Shing Street, Shatin, New Territories, Hong Kong SAR, Hong Kong
    Lancet 360:998-1000. 2002
    ..The fetal genotype was completely concordant with conventional analysis and beta thalassaemia major was excluded in two of the pregnancies non-invasively...
  55. ncbi request reprint HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update
    Belinda Giardine
    The Pennsylvania State University, Center for Comparative Genomics and Bioinformatics, University Park, Pennsylvania, USA
    Hum Mutat 28:206. 2007
    ....