Maria D Cappellini

Summary

Affiliation: University of Milan
Country: Italy

Publications

  1. ncbi request reprint Development of interactive algorithm for clinical management of acute events related to sickle cell disease in emergency department
    Gian Luca Forni
    Department of Clinical Science and Community Health, University of Milan, Milan, Italy
    Orphanet J Rare Dis 9:91. 2014
  2. pmc Coagulopathy in Beta-thalassemia: current understanding and future perspectives
    M Domenica Cappellini
    Universita di Milano, Policlinico Foundation IRCCS, Milan, Italy
    Mediterr J Hematol Infect Dis 1:e2009029. 2009
  3. pmc Exjade(R) (deferasirox, ICL670) in the treatment of chronic iron overload associated with blood transfusion
    Maria Domenica Cappellini
    Universita di Milano, Fondazione Ospedale Maggiore Policlinico, Mangiagalli, Regina Elena IRCCS Milan, Italy
    Ther Clin Risk Manag 3:291-9. 2007
  4. doi request reprint Hypercoagulability in β-thalassemia: a status quo
    Maria Domenica Cappellini
    Department of Internal Medicine, IRCCS Cà Granda Foundation Maggiore Policlinico Hospital, University of Milan, Milan, Italy
    Expert Rev Hematol 5:505-11; quiz 512. 2012
  5. doi request reprint Hypercoagulability in non-transfusion-dependent thalassemia
    Maria D Cappellini
    IRCCS Cà Granda Foundation Maggiore Policlinico Hospital, University of Milan, Via Francesco Sforza 35, Milan, Italy
    Blood Rev 26:S20-3. 2012
  6. pmc Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene
    Francesca Punzo
    Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands
    Orphanet J Rare Dis 6:89. 2011
  7. pmc Myocardial involvement during the early course of type 2 diabetes mellitus: usefulness of myocardial performance index
    Paolo Pattoneri
    Department of Internal Medicine, Nephrology and Health Sciences, University of Parma, Italy
    Cardiovasc Ultrasound 6:27. 2008
  8. ncbi request reprint Current status in iron chelation in hemoglobinopathies
    Maria D Cappellini
    Department of Internal Medicine, Policlinico, Mangiagalli Regina Elena Foundation IRCCS, University of Milan, Via F Sforza 35, 20122 Milano, Italy
    Curr Mol Med 8:663-74. 2008
  9. doi request reprint Overview of iron chelation therapy with desferrioxamine and deferiprone
    Maria D Cappellini
    Universitá di MilanoPoliclinico Foundation IRCCS, Milan, Italy
    Hemoglobin 33:S58-69. 2009
  10. doi request reprint Insight onto the pathophysiology and clinical complications of thalassemia intermedia
    Maria D Cappellini
    Universita di Milano, Policlinico Foundation IRCCS, Milan, Italy
    Hemoglobin 33:S145-59. 2009

Detail Information

Publications108 found, 100 shown here

  1. ncbi request reprint Development of interactive algorithm for clinical management of acute events related to sickle cell disease in emergency department
    Gian Luca Forni
    Department of Clinical Science and Community Health, University of Milan, Milan, Italy
    Orphanet J Rare Dis 9:91. 2014
    ..In the context of the scientific-Italian-Society for the study of Thalassemias and Hemoglobinopathies (SITE), we developed an algorithm with interactive windows to guide physicians in managing SCD patients in EDs. ..
  2. pmc Coagulopathy in Beta-thalassemia: current understanding and future perspectives
    M Domenica Cappellini
    Universita di Milano, Policlinico Foundation IRCCS, Milan, Italy
    Mediterr J Hematol Infect Dis 1:e2009029. 2009
    ..In this review, the molecular and cellular mechanisms leading to hypercoagulability in thalassemia are highlighted, and the current clinical experience is summarized. Recommendations for thrombosis prophylaxis are also discussed...
  3. pmc Exjade(R) (deferasirox, ICL670) in the treatment of chronic iron overload associated with blood transfusion
    Maria Domenica Cappellini
    Universita di Milano, Fondazione Ospedale Maggiore Policlinico, Mangiagalli, Regina Elena IRCCS Milan, Italy
    Ther Clin Risk Manag 3:291-9. 2007
    ..The availability of this convenient, effective, and well tolerated therapy represents a significant advance in the management of transfusional iron overload...
  4. doi request reprint Hypercoagulability in β-thalassemia: a status quo
    Maria Domenica Cappellini
    Department of Internal Medicine, IRCCS Cà Granda Foundation Maggiore Policlinico Hospital, University of Milan, Milan, Italy
    Expert Rev Hematol 5:505-11; quiz 512. 2012
    ..This review summarizes current knowledge of the clinical and pathophysiological characteristics of hypercoagulability in thalassemia patients. Strategies to prevent thrombotic events are also discussed...
  5. doi request reprint Hypercoagulability in non-transfusion-dependent thalassemia
    Maria D Cappellini
    IRCCS Cà Granda Foundation Maggiore Policlinico Hospital, University of Milan, Via Francesco Sforza 35, Milan, Italy
    Blood Rev 26:S20-3. 2012
    ..Strategies to lower the risk of thrombosis should be considered, including transfusion therapy to raise hemoglobin levels and avoidance or delay of splenectomy...
  6. pmc Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene
    Francesca Punzo
    Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands
    Orphanet J Rare Dis 6:89. 2011
    ..The aim of this study was to characterize molecular genomic SEC23B defects in 16 unrelated patients affected by CDAII and correlate the identified genetic alterations with SEC23B transcript and protein levels in erythroid precursors...
  7. pmc Myocardial involvement during the early course of type 2 diabetes mellitus: usefulness of myocardial performance index
    Paolo Pattoneri
    Department of Internal Medicine, Nephrology and Health Sciences, University of Parma, Italy
    Cardiovasc Ultrasound 6:27. 2008
    ..These abnormalities can provide a feasible approach to detect a pre-clinical diabetic cardiomyopathy and could be useful for an indirect assessment of the metabolic control...
  8. ncbi request reprint Current status in iron chelation in hemoglobinopathies
    Maria D Cappellini
    Department of Internal Medicine, Policlinico, Mangiagalli Regina Elena Foundation IRCCS, University of Milan, Via F Sforza 35, 20122 Milano, Italy
    Curr Mol Med 8:663-74. 2008
    ..The efficacy and safety profile have been evaluated in more than 1000 patients in clinical trials allowing FDA registration. Patient satisfaction with Deferasirox was superior than with DFO therapy...
  9. doi request reprint Overview of iron chelation therapy with desferrioxamine and deferiprone
    Maria D Cappellini
    Universitá di MilanoPoliclinico Foundation IRCCS, Milan, Italy
    Hemoglobin 33:S58-69. 2009
    ..The experience with these two drugs helps better delineate the optimal goals of iron chelation therapy and the ideal iron chelator...
  10. doi request reprint Insight onto the pathophysiology and clinical complications of thalassemia intermedia
    Maria D Cappellini
    Universita di Milano, Policlinico Foundation IRCCS, Milan, Italy
    Hemoglobin 33:S145-59. 2009
    ..However, at present, there are no clear guidelines for an orchestrated optimal treatment plan...
  11. pmc Tailoring iron chelation by iron intake and serum ferritin: the prospective EPIC study of deferasirox in 1744 patients with transfusion-dependent anemias
    Maria Domenica Cappellini
    Universita di Milano, Policlinico Foundation IRCCS, Milan, Italy
    Haematologica 95:557-66. 2010
    ....
  12. doi request reprint Glucose-6-phosphate dehydrogenase deficiency
    M D Cappellini
    Department of Internal Medicine, University of Milan, Policlinico, Mangiagalli, Regina Elena Foundation IRCCS, Via F Sforza 35, Milan, Italy
    Lancet 371:64-74. 2008
    ..The most effective management of G6PD deficiency is to prevent haemolysis by avoiding oxidative stress. Screening programmes for the disorder are undertaken, depending on the prevalence of G6PD deficiency in a particular community...
  13. ncbi request reprint Coagulation and splenectomy: an overview
    M D Cappellini
    Department of Internal Medicine, Hereditary Anemia Center, Fondazione Policlinico, Mangiagalli, Regina Elena, IRCCS, University of Milan, Milan, Italy
    Ann N Y Acad Sci 1054:317-24. 2005
    ....
  14. ncbi request reprint Overcoming the challenge of patient compliance with iron chelation therapy
    M D Cappellini
    Centro Anemie Cogenite, Ospedale Maggiore Policlinico, IRCCS, University of Milan, Milano, Italy
    Semin Hematol 42:S19-21. 2005
  15. ncbi request reprint Long-term efficacy and safety of deferasirox
    Maria Domenica Cappellini
    Foundation Ospedale Maggiore Policlinico IRCCS, University of Milan, Milan, Italy
    Blood Rev 22:S35-41. 2008
    ..It is recommended that patients treated with deferasirox are monitored regularly for iron status and adverse events, to ensure that an effective and tolerable iron chelation regimen is established for each individual patient...
  16. ncbi request reprint Long-term experience with deferasirox (ICL670), a once-daily oral iron chelator, in the treatment of transfusional iron overload
    M D Cappellini
    University of Milan, Department of Internal Medicine, Policlinico Foundation IRCCS, Milan, Italy
    Expert Opin Pharmacother 9:2391-402. 2008
    ..While deferoxamine, the current standard of care, is an effective iron chelator, it requires subcutaneous infusion for 8-12 h/day, 5-7 days/week. This regimen is problematic and impacts significantly on patients' daily life...
  17. ncbi request reprint Prospective evaluation of patient-reported outcomes during treatment with deferasirox or deferoxamine for iron overload in patients with beta-thalassemia
    Maria Domenica Cappellini
    Fondazione Policlinico IRCCS, Universitd di Milano, Milan, Italy
    Clin Ther 29:909-17. 2007
    ..Deferasirox is an orally administered iron chelator that has been approved for use in the United States, Switzerland, and other countries...
  18. doi request reprint Porphyrias at a glance: diagnosis and treatment
    Maria Domenica Cappellini
    Dipartimento di Medicina Interna, Fondazione IRCCS Ca Granda, Ospedale Maggiore Policlinico, Universita degli Studi di Milano, Via F Sforza 35, 20122, Milan, Italy
    Intern Emerg Med 5:S73-80. 2010
    ..The therapeutic approach should be appropriate regarding specific forms of porphyria and treatment should be started promptly...
  19. ncbi request reprint Butyrate trials
    M D Cappellini
    Centro Anemie Congenite, Ospedale Maggiore Policlinico IRCCS, Universita di Milano, Italy
    Ann N Y Acad Sci 850:110-9. 1998
    ..Serum Epo and sTfR levels were significantly increased during treatment (p < 0.05 vs baseline)...
  20. ncbi request reprint Metabolic indicators of oxidative stress correlate with haemichrome attachment to membrane, band 3 aggregation and erythrophagocytosis in beta-thalassaemia intermedia
    M D Cappellini
    Hereditary Anaemia Centre, Ospedale Maggiore IRCCS, Department of Internal Medicine, University of Milano Medical School, Italy
    Br J Haematol 104:504-12. 1999
    ....
  21. ncbi request reprint Oral iron chelators
    Maria Domenica Cappellini
    Policlinico, Mangiagalli, Regina Elena Foundation IRCCS, University of Milan, Italy
    Annu Rev Med 60:25-38. 2009
    ..The clinical program demonstrated that deferasirox has a safety profile that is clinically manageable with regular monitoring...
  22. ncbi request reprint Venous thromboembolism and hypercoagulability in splenectomized patients with thalassaemia intermedia
    M D Cappellini
    Centre for Congenital Anaemias and Angelo Bianchi Bonomi Haemophilia and Thrombosis Centre and Department of Internal Medicine, IRCCS Maggiore Hospital and University of Milan, Italy
    Br J Haematol 111:467-73. 2000
    ....
  23. ncbi request reprint Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT)
    M D Cappellini
    Centro Anemie Congenite, Ospedale Maggiore Policlinico IRCCS, Dipartimento di Medicina Interna, University of Milan, Italy
    Hum Mutat 17:350. 2001
    ..Three of these mutations have been detected in more than one subject. These results suggest a molecular heterogeneity at the UROD locus in Italian PCT patients although recurrent mutations have been identified...
  24. ncbi request reprint A phase 3 study of deferasirox (ICL670), a once-daily oral iron chelator, in patients with beta-thalassemia
    Maria Domenica Cappellini
    Fondazione Ospedale Maggiore Policlinico, Mangiagalli, Regina Elena IRCCS, Universita di Milano, Via F Sforza 35, 20122 Milan, Italy
    Blood 107:3455-62. 2006
    ..No agranulocytosis, arthropathy, or growth failure was associated with deferasirox administration. Deferasirox is a promising once-daily oral therapy for the treatment of transfusional iron overload...
  25. ncbi request reprint Hematologically important mutations: acute intermittent porphyria
    Maria Domenica Cappellini
    Centro Anemie Congenite, Ospedale Maggiore Policlinico IRCCS, Dipartimento di Medicina Interna, University of Milan, Milan, Italy
    Blood Cells Mol Dis 28:5-12. 2002
  26. doi request reprint Redefining thalassemia as a hypercoagulable state
    M Domenica Cappellini
    Universita di Milano, Policlinico Foundation IRCCS, Milan, Italy
    Ann N Y Acad Sci 1202:231-6. 2010
    ..In this review, the molecular and cellular mechanisms leading to hypercoagulability in thalassemia are highlighted, and the current clinical experience is summarized. Recommendations for thrombosis prophylaxis are also discussed...
  27. doi request reprint Iron chelation with deferasirox in adult and pediatric patients with thalassemia major: efficacy and safety during 5 years' follow-up
    M Domenica Cappellini
    Universita di Milano, Ca Granda Foundation Istituto di Ricovero e Cura a Carattere Scientifico corrected IRCCS, Milan, Italy
    Blood 118:884-93. 2011
    ..This trial was registered at www.clinicaltrials.gov as #NCT00171210...
  28. ncbi request reprint Iron-chelating therapy with the new oral agent ICL670 (Exjade)
    M D Cappellini
    Centro Anemie Congenite, Ospedale Maggiore Policlinico IRCCS, Via F Sforza 35, 20122 Milano, Italy
    Best Pract Res Clin Haematol 18:289-98. 2005
    ..These encouraging results have provided the rationale for the ongoing phase III programme, and offer physicians and patients the promise of an oral, once-daily, iron-chelating agent for the prevention and management of iron overload...
  29. ncbi request reprint The spectrum of ocular alterations in patients with β-thalassemia syndromes suggests a pathology similar to pseudoxanthoma elasticum
    Giulio Barteselli
    Ophthalmological Unit, Department of Clinical Sciences and Community Health, Ca Granda Foundation Ospedale Maggiore Policlinico, University of Milan, Milan, Italy
    Ophthalmology 121:709-18. 2014
    ..To determine the prevalence and spectrum of ocular fundus abnormalities in patients with β-thalassemia and to investigate risk factors for their development...
  30. doi request reprint Iron overload in non-transfusion-dependent thalassemia: a clinical perspective
    Khaled M Musallam
    IRCCS Cà Granda Foundation Maggiore Policlinico Hospital, University of Milan, Milan, Italy
    Blood Rev 26:S16-9. 2012
    ..Therefore, direct measurement of LIC is recommended with chelation therapy as indicated...
  31. ncbi request reprint G6PD Ferrara I has the same two mutations as G6PD A(-) but a distinct biochemical phenotype
    M D Cappellini
    Istituto di Medicina Interna e Fisiopatologia Medica, Ospedale Maggiore Policlinico, Milano, Italy
    Hum Genet 93:139-42. 1994
    ..The 109-bp mutated amplified sequence is not distinguishable from the normal sequence in single strand conformation polymorphism analysis...
  32. doi request reprint Iron overload in β-thalassemia intermedia: an emerging concern
    Khaled M Musallam
    Department of Medicine and Medical Specialties, Fondazione IRCCS Ca Granda, Ospedale Maggiore Policlinico, University of Milan, Milan, Italy
    Curr Opin Hematol 20:187-92. 2013
    ..The aim is to overview recent evidence on consequences, assessment, and management of iron overload in transfusion-independent patients with β-thalassemia intermedia...
  33. ncbi request reprint Costs, quality of life, treatment satisfaction and compliance in patients with beta-thalassemia major undergoing iron chelation therapy: the ITHACA study
    Luciana Scalone
    CIRFF Centre of Pharmacoeconomics, University of Naples Federico II, Naples, Italy CHARTA Foundation member of COPERA, Milan, Italy
    Curr Med Res Opin 24:1905-17. 2008
    ..The purpose was to estimate the societal burden attributable to beta-TM in terms of direct and indirect costs, health-related quality-of-life (HRQoL), satisfaction and compliance with ICT in patients undergoing transfusions and ICT...
  34. ncbi request reprint Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutaneous
    Valentina Brancaleoni
    Department of Internal Medicine, University of Milan, Centro Anemie Congenite, Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Fondazione IRCCS, MI, Via F Sforza, 35, 20122, Milano, Italy
    Hum Genet 122:554-5. 2007
  35. ncbi request reprint Gene symbol: HMBS. Disease: porphyria, acute intermittent
    E Di Pierro
    Department of Internal Medicine, University of Milan, Centro Anemie Congenite Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena IRCCS, Milan, Italy
    Hum Genet 119:359. 2006
  36. ncbi request reprint Gene symbol: HMBS. Disease: porphyria, acute intermittent
    E Di Pierro
    Department of Internal Medicine, University of Milan, Centro Anemie Congenite Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena IRCCS, Milan, Italy
    Hum Genet 119:360. 2006
  37. ncbi request reprint Gene symbol: FECH. Disease: Porphyria, erythropoietic. Accession #Hg0501
    E Di Pierro
    Department of Internal Medicine, University of Milan, Centro Anemie Congenite Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena IRCCS, Italy
    Hum Genet 118:776. 2006
  38. ncbi request reprint Gene symbol: FECH. Disease: Porphyria, erythropoietic
    Valentina Brancaleoni
    Dipartamento di Medicina Interna Università degli studi di Milano Ospedale Maggiore Policlinico, F Sforza, 35, 20122 Milano, Italy
    Hum Genet 124:296. 2008
  39. ncbi request reprint Novel human pathological mutations. Gene symbol: HMBS. Disease: porphyria, acute intermittent
    E Di Pierro
    Department of Internal Medicine University of Milan, Centro Anemie Congenite Maggiore Policlinico, Mangiagalli and Regina Elena Hospital IRCCS Via F Sforza, 35 20122 Milan, Italy
    Hum Genet 122:417. 2007
  40. ncbi request reprint Gene symbol: CPOX
    Sabrina Ausenda
    University of Milan Maggiore Policlinico Foundation, Internal Medicine, F Sforza, 35, 20122, Milan, Italy
    Hum Genet 121:296. 2007
  41. ncbi request reprint Red blood cell antioxidant and iron status in alcoholic and nonalcoholic cirrhosis
    Gemino Fiorelli
    Department of Internal Medicine, Ospedale Maggiore Policlinico IRCCS, Padiglione Granelli, University of Milan, Via F Sforza 35, 20122 Milan, Italy
    Eur J Clin Invest 32:21-7. 2002
    ..The aim of this study was to assess oxidative damage and red cell indicators of antioxidant defences in alcoholics with mild-to-severe liver cirrhosis, taking into account the iron status...
  42. doi request reprint Deferasirox (Exjade) for the treatment of iron overload
    M D Cappellini
    Fondazione Ospedale Maggiore Policlinico, Istituto di Ricovero e Cura a Carattere Scientifico, Universita di Milano, Milano, Italia
    Acta Haematol 122:165-73. 2009
    ..Data continue to accumulate in a wide range of patient groups, including those with non-transfusion-dependent anemias such as hereditary hemochromatosis...
  43. ncbi request reprint Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutaneous
    Valentina Brancaleoni
    University of Milan, IRCCS Foundation Maggiore Hospital, MI, Via F Sforza, 35, 20122, Milan, Italy
    Hum Genet 122:415. 2007
  44. ncbi request reprint Clinical, biochemical and genetic characteristics of Variegate Porphyria in Italy
    E Di Pierro
    Dipartimento di Medicina Interna, Università degli Studi di Milano Fondazione Ospedale Maggiore Policlinico Mangiagalli e Regina Elena IRCCS Milano, Italy
    Cell Mol Biol (Noisy-le-grand) 55:79-88. 2009
    ..Normal urinary excretion of PBG and ALA, predicted absence of neurovisceral symptoms. This paper represents the first compilation of data on genotype-phenotype relation in Italian patients with VP...
  45. ncbi request reprint Gene symbol: FECH. Disease: Porphyria, erythropoietic
    Valentina Brancaleoni
    Dipartamento di Medicina Interna Università degli studi di Milano Ospedale Maggiore Policlinico, F Sforza, 35, 20122 Milano, Italy
    Hum Genet 124:296. 2008
  46. ncbi request reprint Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutaneous
    Valentina Brancaleoni
    Department of Internal Medicine University of Milan Centro Anemie Congenite Maggiore Policlinico, Mangiagalli and Regina Elena Hospital IRCCS, Milano, F Sforza, 35, 20122, Milano, Italy
    Hum Genet 122:554. 2007
  47. ncbi request reprint Co-existence of two functional mutations on the same allele of the human ferrochelatase gene in erythropoietic protoporphyria
    E Di Pierro
    Department of Internal Medicine, Maggiore Policlinico, Mangiagalli and Regina Elena Foundation IRCCS, University of Milan, Italy
    Clin Genet 71:84-8. 2007
    ..By RNA and long polymerase chain reaction analysis, we identified a deletion of 5576 bp (g12490_18067), including exons 3 and 4, in cis with the -250G>C mutation in the promoter...
  48. ncbi request reprint Gene symbol: HMBS. Disease: Porphyria, acute intermittent
    E Di Pierro
    Department of Internal Medicine, University of Milan, Centro Anemie Congenite, Maggiore Policlinico Hospital IRCCS, Italy
    Hum Genet 116:543. 2005
  49. ncbi request reprint Human gene mutations. Gene symbol: FECH. Disease: Porphyria, erythropoietic
    E Di Pierro
    Department of Internal Medicine, Centro Anemie Congenite, University of Milan, Ospedale Maggiore Policlinico IRCCS, Via F Sforza 35, 20122 Milan, Italy
    Hum Genet 114:221. 2004
  50. ncbi request reprint Human gene mutations. Gene symbol: UROD. Disease: Porphyria, cutanea tarda
    F Martinez di Montemuros
    Dipartimento di Medicina Interna, Centro Anemie Congenite, University of Milan, Ospedale Maggiore Policlinico IRCCS, Via F Sforza 35, 20122 Milan, Italy
    Hum Genet 114:221. 2004
  51. ncbi request reprint Gene symbol: HBMS. Disease: Porphyria, acute intermittent
    E Di Pierro
    Department of Internal Medicine, University of Milan, Centro Anemie Congenite, Milan, Italy
    Hum Genet 114:607. 2004
  52. ncbi request reprint Gene Symbol: FECH. Disease: Porphyria, erythropoietic
    E Di Pierro
    Department of Internal Medicine, University of Milan, Centro Anemie Congenite, Milan, Italy
    Hum Genet 114:608. 2004
  53. ncbi request reprint Gne symbol: PPOX. Disease: variegate porphyria
    E Patti
    Department of Internal Medicine, University of Milan, Milan, Italy
    Hum Genet 115:170. 2004
  54. ncbi request reprint Gene symbol: HMBS. Disease: porphyria, acute intermittent
    E Di Pierro
    Department of Internal Medicine, University of Milan, Milan, Italy
    Hum Genet 115:172. 2004
  55. ncbi request reprint Gene symbol: HMBS. Disease: Porphyria, acute intermittent
    E Di Pierro
    Department of Internal Medicine, University of Milan, Centro Anemie Congenite, Maggiore Policlinico Hospital IRCCS, Italy
    Hum Genet 116:537. 2005
  56. ncbi request reprint Gene symbol: PPOX. Disease: variegate porphyria
    E Patti
    Department of Internal Medicine, University of Milan, Milan, Italy
    Hum Genet 115:172. 2004
  57. ncbi request reprint Gene symbol: UROD. Disease: Porphyria, cutanea tarda
    F Martinez di Montemuros
    Dipartimento di Medicina Interna, University of Milan Centro Anemie Congenite, Ospedale Maggiore Policlinico IRCCS, Milan, Italy
    Hum Genet 113:368. 2003
  58. ncbi request reprint Molecular characterization of porphyrias in Italy: a diagnostic flow-chart
    F Martinez di Montemuros
    Dipartimento di Medicina Interna, University of Milan, Ospedale Maggiore Policlinico IRCCS, Via F Sforza 35, 20122 Milan, Italy
    Cell Mol Biol (Noisy-le-grand) 48:867-76. 2002
    ..Among the 50 molecular defects, 29 seem to be restricted to the Italian population...
  59. ncbi request reprint Osteoporosis in beta-thalassaemia major patients: analysis of the genetic background
    S Perrotta
    Dipartimento di Paediatria, II Universita di Napoli, Dipartimento di Medicina Interna, Ospedale Maggiore Policlinico, IRCCS, Milano, Italy
    Br J Haematol 111:461-6. 2000
    ..022 and 0.004 respectively), with men more severely affected. Analysis of COLIA1 polymorphism could help to identify those thalassaemic patients at risk of osteoporosis and fractures...
  60. ncbi request reprint TT virus infection in adult beta-thalassemia major patients
    M Sampietro
    Dipartimento di Medicina Interna, Universita di Milano, Milan, Italy
    Haematologica 86:39-43. 2001
    ..The aims of this study were to assess the prevalence of TTV infection in adult patients with transfusion-dependent thalassemia, and to evaluate the clinical significance of TTV...
  61. ncbi request reprint Non-transferrin-bound iron in alcohol abusers
    T M De Feo
    Dipartimento di Medicina Interna, , Milano, Italy
    Alcohol Clin Exp Res 25:1494-9. 2001
    ..Longitudinal study confirmed the data of the cross-sectional study. CONCLUSIONS: Non-transferrin-bound iron could have a role in initiating or promoting alcohol-induced liver damage...
  62. ncbi request reprint Acute intermittent porphyria: heterogeneity of mutations in the hydroxymethylbilane synthase gene in Italy
    F Martinez di Montemuros
    Centro Anemie Congenite, Ospedale Maggiore Policlinico IRCCS Dipartimento di Medicina Interna, University of Milan, Milan, Italy
    Blood Cells Mol Dis 27:961-70. 2001
    ..We can conclude that the mutation screening in the Italian population contributes to improvement of the diagnostic approach of AIP and to establishing possible clustering of mutations in the Mediterranean area...
  63. ncbi request reprint Oxidative status and malondialdehyde in beta-thalassaemia patients
    Giuliana Cighetti
    Department of Medical Chemistry and Biochemistry, Ospedale Maggiore IRCCS, Faculty of Medicine, University of Milan, Via Saldini 50, 20133 Milan, Italy
    Eur J Clin Invest 32:55-60. 2002
    ..The aim of this study was to detect and correlate iron overload parameters with the oxidative stress and the antioxidant capability in beta-thalassaemia patients...
  64. ncbi request reprint Lung function in beta-thalassemia patients: a longitudinal study
    G Piatti
    Istituto di Tisiologia e delle Malattie dell Apparato Respiratorio, Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Fondazione IRCCS, Milano, Italia
    Acta Haematol 116:25-9. 2006
    ..An improvement may be observed when good control of the iron balance is reached with optimal chelation therapy...
  65. ncbi request reprint Gene symbol: HMBS. Disease: porphyria, acute intermittent
    E Di Pierro
    Department of Internal Medicine, University of Milan, Centro Anemie Congenite Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena IRCCS, Milan, Italy
    Hum Genet 119:364. 2006
  66. ncbi request reprint Gene Symbol: FECH. Disease: Porphyria, erythropoietic
    E Di Pierro
    Department of Internal Medicine, University of Milan, Centro Anemie Congenite, Milan, Italy
    Hum Genet 114:609. 2004
  67. ncbi request reprint Gene symbol: HMBS. Disease: Porphyria, acute intermittent
    E Di Pierro
    Department of Internal Medicine, University of Milan, Centro Anemie Congenite, Maggiore Policlinico Hospital IRCCS, Italy
    Hum Genet 116:535. 2005
  68. ncbi request reprint Gene symbol: PPOX. Disease: Porphyria, variegate
    Sabrina Ausenda
    Department of Internal Medicine, University of Milan, Centro Anemie Congenite, Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Fondazione IRCCS, Milano, F Sforza, 35, 20122 Milano, Italy
    Hum Genet 123:109. 2008
  69. doi request reprint Erythropoietin in Friedreich ataxia: no effect on frataxin in a randomized controlled trial
    Caterina Mariotti
    SOSD Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS, Istituto Neurologico Carlo Besta, Milan, Italy
    Mov Disord 27:446-9. 2012
    ..Recently, human recombinant erythropoietin was reported to increase frataxin levels in patients with Friedreich ataxia...
  70. ncbi request reprint Exercise capacity in patients with beta-thalassaemia intermedia
    Piergiuseppe Agostoni
    Centro Cardiologico Monzino, IRCCS, Istituto di Cardiologia, Universita di Milano, Milan, Italy
    Br J Haematol 131:278-81. 2005
    ..Spleen contraction does not significantly influence exercise capacity although exercise-induced haemoconcentration was greater in patients with spleen...
  71. ncbi request reprint Non-transferrin-bound iron in myelodysplastic syndromes: a marker of ineffective erythropoiesis?
    A Cortelezzi
    Servizio Autonomo di Ematologia Diagnostica, Ospedale Maggiore, IRCCS, Milano, Italy
    Hematol J 1:153-8. 2000
    ....
  72. ncbi request reprint Gene symbol: HMBS
    V Besana
    Department of Internal Medicine University of Milan, Centro Anemie Congenite Maggiore Policlinico, Mangiagalli and Regina Elena, Foundation IRCCS, Milan, Italy
    Hum Genet 121:299. 2007
  73. doi request reprint Abnormal fundus autofluorescence results of patients in long-term treatment with deferoxamine
    Francesco Viola
    Universita degli Studi di Milano, U O Oculistica, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Milan, Italy
    Ophthalmology 119:1693-700. 2012
    ..To describe and classify patterns of abnormal fundus autofluorescence (FAF) of patients with β-thalassemia receiving long-term treatment with deferoxamine (DFO)...
  74. doi request reprint Genetic variability of TMPRSS6 and its association with iron deficiency anaemia
    Paola Delbini
    Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, University of Milan, Italy
    Br J Haematol 151:281–4. 2010
    ..Our preliminary results suggest a possible association between specific haplotypes of TMPRSS6 and IRIDA...
  75. ncbi request reprint Gene symbol: UROD
    Valentina Brancaleoni
    University of Milan Maggiore Policlinico Foundation, Internal Medicine, F Sforza, 35, 20122, Milan, Italy
    Hum Genet 121:296-7. 2007
  76. ncbi request reprint Audiological evaluation in adult beta-thalassemia major patients under regular chelation treatment
    U Ambrosetti
    Department of Otolaryngology, University of Milan, Milan, Italy
    Pharmacol Res 42:485-7. 2000
    ....
  77. ncbi request reprint Transfusion-transmitted human parvovirus B19 infection in a thalassemic patient
    A Zanella
    Divisione di Ematologia, Centro Trasfusionale e di Immunologia dei Trapianti, Milan, Italy
    Transfusion 35:769-72. 1995
    ..So far, no case of B19 transmission due to single-donor transfusion has been documented...
  78. ncbi request reprint Novel human pathological mutations. Gene symbol: FECH. Disease: porphyria, erythropoietic
    V Brancaleoni
    Department of Internal Medicine, University of Milan, and Centro Anemie Congenite, Ospedale Maggiore Policlinico, Italy
    Hum Genet 121:646. 2007
  79. doi request reprint The pituitary-adrenal axis in adult thalassaemic patients
    Massimo Scacchi
    Chair of Endocrinology, Universita degli Studi di Milano, Division of Endocrinology and Metabolic Diseases, Ospedale San Luca IRCCS, Istituto Auxologico Italiano, Milan, Italy
    Eur J Endocrinol 162:43-8. 2010
    ..We previously described in young thalassaemic patients an altered cortisol and ACTH responsiveness suggesting an impaired adrenocortical reserve. Owing to iron overload, a worsening of adrenal function should be expected in adult patients...
  80. ncbi request reprint Gene symbol: HBB
    C Refaldi
    Department of Internal Medicine University of Milan, Centro Anemie Congenite Mggiore Policlinico, Mangiagalli and Regina Elena Foundation IRCCS, Milan, Italy
    Hum Genet 121:298. 2007
  81. ncbi request reprint An erythroid-specific transcript generates the soluble form of NADH-cytochrome b5 reductase in humans
    A Bulbarelli
    Consiglio Nazionale delle Ricerche Center for Cellular and Molecular Pharmacology, Department of Pharmacology, University of Milan, Milan, Italy
    Blood 92:310-9. 1998
    ..Our results indicate that the S-transcript is expressed at late stages of erythroid maturation to generate soluble b5R...
  82. ncbi request reprint The safety and effectiveness of deferiprone in a large-scale, 3-year study in Italian patients
    Adriana Ceci
    Dipartimento di Farmacologia, Universita di Bari, Fondazione Salvatore Maugeri, Research Institute, Pavia, Italy
    Br J Haematol 118:330-6. 2002
    ..These data show that the drug was effective in reducing serum ferritin levels and the incidence of adverse events was not greater than the frequency reported in clinical trials...
  83. ncbi request reprint Randomized phase II trial of deferasirox (Exjade, ICL670), a once-daily, orally-administered iron chelator, in comparison to deferoxamine in thalassemia patients with transfusional iron overload
    Antonio Piga
    Centro Microcitemie, Divisione di Ematologia Pediatrica, Dipartimento di Scienze Pediatriche, Universita di Torino, Italy
    Haematologica 91:873-80. 2006
    ..In a phase II study, the tolerability and efficacy of deferasirox were compared with those of DFO in 71 adults with transfusional hemosiderosis...
  84. ncbi request reprint Prevalence of thromboembolic events among 8,860 patients with thalassaemia major and intermedia in the Mediterranean area and Iran
    Ali Taher
    Internal Medicine, American University of Beirut, Beirut, Lebanon
    Thromb Haemost 96:488-91. 2006
    ..Due to the increased risk of thromboembolic events, the rationale for splenectomy should perhaps be re-assessed and the role of transfusion therapy for the prophylaxis of thrombosis, among other complications, be evaluated prospectively...
  85. ncbi request reprint Cardiac morbidity and mortality in deferoxamine- or deferiprone-treated patients with thalassemia major
    Caterina Borgna-Pignatti
    Clinica Pediatrica Università di Ferrara, Dipartimento di Medicina Clinica e Sperimentale, Via Fossato di Mortara 17 19, 44100 Ferrara, Italy
    Blood 107:3733-7. 2006
    ..In the setting of a natural history study, deferiprone therapy was associated with significantly greater cardiac protection than deferoxamine in patients with thalassemia major...
  86. ncbi request reprint Gene symbol: HAMP. Disease: Haemochromatosis, juvenile
    Paola Delbini
    Department of Internal Medicine, University of Milan, Maggiore Policlinico Foundation IRCCS, Via F Sforza, 35, 20122 Milan, Italy
    Hum Genet 124:313. 2008
  87. ncbi request reprint Reversal of cardiac complications by deferiprone and deferoxamine combination therapy in a patient affected by a severe type of juvenile hemochromatosis (JH)
    Giovanna Fabio
    Department of Internal Medicine, Università degli Studi di Milano and Fondazione Istituto di Ricovero e Cura a Carattere Scientifico IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milano, Italy
    Blood 109:362-4. 2007
    ..To our knowledge, this is the first patient affected by JH treated with combined chelation regimen...
  88. ncbi request reprint Levels of uroporphyrinogen decarboxylase (URO-D) in erythrocytes of Italian porphyria cutanea tarda patients
    Dario Tavazzi
    Centro Anemie Congenite, IRCCS Ospedale Maggiore Policlinico, Padiglione Granelli, Dipartimento di Medicina Intema, Universita degli Studi di Milano, Italy
    Cell Mol Biol (Noisy-le-grand) 48:27-32. 2002
    ..8% of patients, suggesting the familial form of PCT (type II). In this group, the outcome of PCT seems to be less influenced by risk factors. Patients with over-normal URO-D activity in RBC deserve further investigation...
  89. doi request reprint Effect of food, type of food, and time of food intake on deferasirox bioavailability: recommendations for an optimal deferasirox administration regimen
    Renzo Galanello
    Ospedale Regionale Microcitemie, Dipartimento di Scienze, Biomediche e Biotechnologie, Universita di Cagliari, Italy
    J Clin Pharmacol 48:428-35. 2008
    ..When this is not feasible, deferasirox should be administered consistently at the same time before meals to limit the sources of variability that affect absorption...
  90. ncbi request reprint Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Fars province of Iran
    Mehran Karimi
    Haematologica 88:346-7. 2003
  91. doi request reprint Stroke in thalassemia: a dilemma
    Ali Taher
    Am J Hematol 83:343. 2008
  92. ncbi request reprint Survival and complications in patients with thalassemia major treated with transfusion and deferoxamine
    Caterina Borgna-Pignatti
    Department of Pediatrics, University of Ferrara
    Haematologica 89:1187-93. 2004
    ..The interactions between gender, birth cohort, complications, and ferritin on survival and complications were analyzed...
  93. pmc Relative response of patients with myelodysplastic syndromes and other transfusion-dependent anaemias to deferasirox (ICL670): a 1-yr prospective study
    John Porter
    University College London, London, UK
    Eur J Haematol 80:168-76. 2008
    ..Dosage was determined by baseline liver iron concentration (LIC)...
  94. ncbi request reprint Italian Society of Hematology practice guidelines for the management of iron overload in thalassemia major and related disorders
    Emanuele Angelucci
    Hematology Department and BMT Unit, Cancer Center Armando Businco, viale Edward Jenner, 09121 Cagliari, Italy
    Haematologica 93:741-52. 2008
    ....
  95. ncbi request reprint Clinical and histological characterization of liver disease in patients with transfusion-dependent beta-thalassemia. A multicenter study of 117 cases
    Daniele Prati
    Dept of Blood Transfusion and Transplantation Immunology, IRCCS Ospedale Maggiore, Milan, Italy
    Haematologica 89:1179-86. 2004
    ..We conducted a multicenter study within the Cooleycare Group to describe the clinical and histopathological features of liver disease in currently treated thalassemics...
  96. ncbi request reprint Red blood cell enzyme disorders: an overview
    Dario Tavazzi
    Department of Internal Medicine, University of Milan, Fondazione IRCCS Policlinico, Mangiagalli, Regina Elena, Milan, Italy
    Pediatr Ann 37:303-10. 2008
  97. ncbi request reprint Gene symbol: G6PD. Disease: Glucose-6-phosphate dehydrogenase deficiency
    Paola Delbini
    Department of Internal Medicine, University of Milan, Maggiore Policlinico Foundation IRCCS, Via F Sforza, 35, 20122 Milan, Italy
    Hum Genet 124:312-3. 2008
  98. ncbi request reprint A large deletion on chromosome 11 in acute intermittent porphyria
    Elena Di Pierro
    Department of Internal Medicine, Maggiore Policlinico, Mangiagalli and Regina Elena, Foundation IRCCS, University of Milan, Italy
    Blood Cells Mol Dis 37:50-4. 2006
    ..Even if the deletions include the entire HMBS and H2AFX genes and 1463 bp of the final portion of DPAGT1 gene, our patients had no other symptoms than AIP...
  99. ncbi request reprint Beta-thalassemia intermedia: an overview
    Fuad El Rassi
    Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon
    Pediatr Ann 37:322-8. 2008
  100. ncbi request reprint Hepatocellular carcinoma in the thalassaemia syndromes
    Caterina Borgna-Pignatti
    Dipartimento di Medicina Clinica e Sperimentale Pediatria, University of Ferrara, Ferrara, Italy
    Br J Haematol 124:114-7. 2004
    ..Eighty-six percent had been infected by hepatitis C virus. Nineteen of 22 cases were diagnosed after 1993, suggesting that this problem is becoming more frequent with the aging population of thalassaemia patients...
  101. ncbi request reprint Efficacy and safety of sildenafil in the treatment of severe pulmonary hypertension in patients with hemoglobinopathies
    Giorgio Derchi
    Struttura Complessa di Cardiologia, Ospedali Galliera, Genoa, Italy
    Haematologica 90:452-8. 2005
    ..The primary objective of this study was to evaluate the efficacy of sildenafil treatment in the control of PH in patients with hemoglobinopathies...