Maria D Cappellini

Summary

Affiliation: University of Milan
Country: Italy

Publications

  1. ncbi 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
  2. ncbi 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
  3. ncbi 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
  4. ncbi 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
  5. ncbi 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
  6. ncbi Oral iron chelators
    Maria Domenica Cappellini
    Policlinico, Mangiagalli, Regina Elena Foundation IRCCS, University of Milan, Italy
    Annu Rev Med 60:25-38. 2009
  7. ncbi 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
  8. ncbi 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. ncbi 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
  10. ncbi 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

Detail Information

Publications104 found, 100 shown here

  1. ncbi 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...
  2. ncbi 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...
  3. ncbi 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...
  4. ncbi 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...
  5. ncbi 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...
  6. ncbi 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...
  7. ncbi 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...
  8. ncbi 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. ncbi 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...
  10. ncbi 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
    ..gov identifier: NCT00171821)...
  11. ncbi 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...
  12. ncbi 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...
  13. ncbi 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
  14. ncbi 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
    ....
  15. ncbi 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...
  16. ncbi 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...
  17. ncbi 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)...
  18. ncbi 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
    ....
  19. ncbi 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...
  20. ncbi 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
    ....
  21. ncbi 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...
  22. ncbi 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...
  23. ncbi 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...
  24. ncbi 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...
  25. ncbi 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. ncbi 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...
  27. ncbi 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...
  28. ncbi 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...
  29. ncbi 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...
  30. ncbi 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
  31. ncbi 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
  32. ncbi 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...
  33. ncbi 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
  34. ncbi Gene symbol: CPOX
    Sabrina Ausenda
    University of Milan-Maggiore Policlinico Foundation, Internal Medicine, F. Sforza, 35, 20122, Milan, Italy
    Hum Genet 121:296. 2007
  35. ncbi 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
  36. ncbi 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
  37. ncbi 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
  38. ncbi 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
  39. ncbi 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
  40. ncbi Gene symbol: FECH. Disease: Porphyria, erythropoietic
    Valentina Brancaleoni
    , F. Sforza, 35, 20122 Milano, Italy
    Hum Genet 124:296. 2008
  41. ncbi Gene symbol: FECH. Disease: Porphyria, erythropoietic
    Valentina Brancaleoni
    , F. Sforza, 35, 20122 Milano, Italy
    Hum Genet 124:296. 2008
  42. ncbi 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...
  43. ncbi 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...
  44. ncbi 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...
  45. ncbi 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
  46. ncbi 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...
  47. ncbi 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
  48. ncbi 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...
  49. ncbi 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
  50. ncbi 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...
  51. ncbi 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...
  52. ncbi Gne symbol: PPOX. Disease: variegate porphyria
    E Patti
    Department of Internal Medicine, University of Milan, Milan, Italy
    Hum Genet 115:170. 2004
  53. ncbi Gene symbol: PPOX. Disease: variegate porphyria
    E Patti
    Department of Internal Medicine, University of Milan, Milan, Italy
    Hum Genet 115:172. 2004
  54. ncbi 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...
  55. ncbi Gene symbol: HMBS. Disease: porphyria, acute intermittent
    E Di Pierro
    Department of Internal Medicine, University of Milan, Milan, Italy
    Hum Genet 115:172. 2004
  56. ncbi 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
  57. ncbi 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 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
  59. ncbi 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...
  60. ncbi 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
  61. ncbi 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
  62. ncbi 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
  63. ncbi 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
  64. ncbi Iron overload in β-thalassemia intermedia: an emerging concern
    Khaled M Musallam
    aDepartment of Medicine and Medical Specialties, Fondazione IRCCS Ca Granda, Ospedale Maggiore Policlinico, University of Milan, Milan, Italy bDepartment of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon
    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...
  65. ncbi 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...
  66. ncbi 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...
  67. ncbi 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
    ....
  68. ncbi 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
  69. ncbi 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)...
  70. ncbi 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...
  71. ncbi 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...
  72. ncbi 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
  73. ncbi 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
  74. ncbi 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
    ....
  75. ncbi 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...
  76. ncbi 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...
  77. ncbi 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
  78. ncbi 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
  79. ncbi Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Fars province of Iran
    Mehran Karimi
    Haematologica 88:346-7. 2003
  80. ncbi 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...
  81. ncbi 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...
  82. ncbi 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, , 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...
  83. ncbi 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
  84. ncbi 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
  85. ncbi 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...
  86. ncbi 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...
  87. ncbi 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...
  88. ncbi 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...
  89. ncbi 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)...
  90. ncbi Stroke in thalassemia: a dilemma
    Ali Taher
    Am J Hematol 83:343. 2008
  91. ncbi 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...
  92. ncbi 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...
  93. ncbi 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
    ....
  94. ncbi 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...
  95. ncbi Growth hormone deficiency (GHD) in adult thalassaemic patients
    Massimo Scacchi
    Chair of Endocrinology, University of Milan, Ospedale San Luca IRCCS, Istituto Auxologico Italiano, Milan, Italy
    Clin Endocrinol (Oxf) 67:790-5. 2007
    ..Therefore, we elected to study the growth hormone and insulin-like growth factor-I (GH-IGF-I) axis in a large group of adult thalassaemic subjects...
  96. ncbi 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...
  97. ncbi Analysis of intelligence quotient in patients with homozygous beta-thalassemia
    Mehran Karimi
    Hematology Research Center, Pediatric Department, Namazee Hospital, Shiraz University of Medical Sciences, Shiraz, Iran
    Saudi Med J 27:982-5. 2006
    ..To compare the intelligence quotient (IQ) of patients with thalassemia major (TM) to that of normal children...
  98. ncbi Changes in erythropoiesis, iron metabolism and oxidative stress after half-marathon
    Lorena Duca
    Department of Internal Medicine, University of Milan and IRCCS Ospedale Maggiore Hospital, Mangiagalli e Regina Elena Foundation, Milan, Italy
    Intern Emerg Med 1:30-4. 2006
    ..0212) were observed. CONCLUSIONS: The erythropoietic changes observed in marathon runners are the results of several interacting mechanisms that involve either the haemopoietic system per se or erythrocyte haemolysis and oxidative stress...
  99. ncbi 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 A point mutation affecting an SP1 binding site in the promoter of the ferrochelatase gene impairs gene transcription and causes erythropoietic protoporphyria
    Elena Di Pierro
    Department of Internal Medicine, Centro Anemie Congenite, Maggiore Policlinico Hospital IRCCS, University of Milan, Milan, Italy
    Exp Hematol 33:584-91. 2005
    ..The weaker allele expression has been controversially associated to the presence of different intragenic polymorphisms...
  101. ncbi K-CL co-transport plays an important role in normal and beta thalassemic erythropoiesis
    Lucia De Franceschi
    Department of Clinical and Experimental Medicine, University of Verona, Italy
    Haematologica 92:1319-26. 2007
    ..We evaluated the possible role of K-Cl co-transport (KCC) in both normal and beta-thalassemic erythropoiesis in vitro...