The thalassaemia syndromes

References

• Weatherall D. J., Clegg J. B. Inherited hemoglobin disorders: an increasing global health problem. Bull World Health Organ 2001; 79: 704–12
   PubMed Web of Science ®Google Scholar
• AVS Hill. Molecular epidemiology of the thalassaemias (including haemoglobin E). Baillieres Clin Haematol 1992; 5: 209–38
   PubMed Web of Science ®Google Scholar
• Angastiniotis M., Modell B. Global epidemiology of hemoglobin disorders. Ann NY Acad Sci 1998; 850: 251–69
   PubMed Web of Science ®Google Scholar
• Flint J., Harding R. M., Boyce A. J., Clegg J. B. The population genetics of the haemoglobinopathies. Baillieres Clin Haematol 1998; 11: 1–52
   PubMed Web of Science ®Google Scholar
• Olivieri N. F. The β‐thalassemias. N Engl J Med 1999; 341: 99–109
   PubMed Web of Science ®Google Scholar
• Weatherall D. J. The thalassaemias. Br Med J 1997; 314: 1675–8
   PubMed Web of Science ®Google Scholar
• Thein S. L. Genetic insights into the clinical diversity of β‐thalassaemia. Br J Haematol 2004; 124: 264–74
   PubMed Web of Science ®Google Scholar
• Higgs D. R. α‐Thalassaemia. Baillieres Clin Haematol 1993; 6: 117–50
   PubMed Web of Science ®Google Scholar
• Working Party of the General Haematology Task Force of the British Committee for Standards in Haematology. Guideline: The laboratory diagnosis of haemaoglobinopathies. Br J Haematol 1998; 101: 783–92
   PubMed Web of Science ®Google Scholar
• Huisman T. H. J. The structure and function of normal and abnormal haemoglobins. Baillieres Clin Haematol 1993; 6: 1–30
   PubMed Web of Science ®Google Scholar
• Grosveld F., Dillon N., Higgs D. R. The regulation of human globin gene expression. Bailleres Clin Haematol 1993; 6: 31–56
   PubMed Web of Science ®Google Scholar
• Schrier S. L. Pathophysiology of thalassaemia. Curr Opin Hematol 2002; 9: 123–6
   PubMed Web of Science ®Google Scholar
• Thein S. L. β‐Thalassaemia. Baillieres Clin Haematol 1998; 11: 91–126
   PubMed Web of Science ®Google Scholar
• Kazazian H. H. The thalassaemia syndromes: molecular basis and prenatal diagnosis in 1990. Sem Hematol 1990; 27: 209–28
   PubMed Web of Science ®Google Scholar
• Cao A., Galanello R., Rosatelli M. C. Genotype‐phenotype correlations in β‐thalassaemias. Blood Rev 1994; 8: 1–12
   PubMed Web of Science ®Google Scholar
• Orkin S. H., Kazazian H. H. J., Antonarakis S. E., Ostrer H., Goff S. C., Sexton J. P. Abnormal RNA processing due to the exon mutation of βE‐globin gene. Nature 1982; 300: 768–9
   PubMed Web of Science ®Google Scholar
• Treisman R., Orkin S. H., Maniatis T. Specific transcription and RNA splicing defects in five cloned β‐thalassaemia genes. Nature 1983; 302: 591–6
   PubMed Web of Science ®Google Scholar
• Garner C. P., Tatu T., Best S., Creary L., Thein S. L. Evidence for genetic interaction between the beta‐globin complex and chromosome 8q in the expression of fetal hemoglobin. Am J Hum Gen 2002; 70: 793–9
   PubMed Web of Science ®Google Scholar
• Rochette J., Craig J. E., Thein S. L. Fetal hemoglobin levels in Adults. Blood Rev 1994; 8: 213–24
   PubMed Web of Science ®Google Scholar
• Galanello R., Ruggeri R., Paglietti E., Addis M., Melis M. A., Cao A. A family with segregating triplicated alpha globin loci and β‐thalassemia. Blood 1983; 62: 1035–40
   PubMed Web of Science ®Google Scholar
• deSilva S., Fischer C. A., Premawardhena A., Lamabadusuriya S. P., Peto T. E. A., Perera G., et al. and the Sri lanka Thalassaemia Study Group. Thalassaemia in Sri Lanka: implications for the future health burden of Asian populations. Lancet 2000; 355: 786–91
   PubMed Web of Science ®Google Scholar
• Bernini L. F., Harteveld C. L. α‐Thalassaemia. Baillieres Clin Haematol 1998; 11: 53–90
   PubMed Web of Science ®Google Scholar
• Styles L. A. Hemoglobin H‐constant spring disease: an under‐recognized severe form of α thalassemia. J Pediatr Hematol/Oncol 1997; 4: 69–74
   Web of Science ®Google Scholar
• Chui D. H. K., Waye J. S. Hydrops fetalis caused by α‐thalassaemia: an emerging health care problem. Blood 1998; 91: 2213–22
   PubMed Web of Science ®Google Scholar
• Chui D. H. K., Fucharoen S., Chan V. Hemoglobin H disease: not necessarily a benign disorder. Blood 2003; 101: 791–800
   PubMed Web of Science ®Google Scholar
• Chen F. E., Ooi C., Ch B., Ha S. Y., Cheung B. M. Y., Chir B., et al. Genetic and clinical features of hemoglobin H disease in Chinese patients. N Engl J Med 2000; 343: 544–50
   PubMed Web of Science ®Google Scholar
• Weatherall D. J., Clegg J. B. The thalassaemia syndromes. 3rd edn. Blackwell Scientific, Oxford 1981
   Google Scholar
• Weatherall D. J. Pathophysiology of thalassaemia. Baillieres Clin Haematol 1998; 11: 127–46
   PubMed Web of Science ®Google Scholar
• Rioja L., Girot R., Garabedian M., Cournot‐Witmer G. Bone disease in children with homozygous β‐thalassemia. Bone Mineral 1990; 8: 69–86
   PubMedGoogle Scholar
• Finch C. A., Deubelbeiss K., Cook J. D., Eschbach J. W., Harker L. A., Funk D. D., et al. Ferrokinetics in man. Medicine (Baltimore) 1970; 49: 17–53
   PubMed Web of Science ®Google Scholar
• Rouault T. A., Klausner R. D. Molecular basis of iron metabolism. The molecular basis of blood diseases, 3rd edn, M Stamatoyannopoulos, V Perlmutter. W. B. Saunders, Philadelphia, Pa 2001; 363–81
   Google Scholar
• Porter J. B. Practical management of iron overload. Br J Haematol 2001; 115: 239–52
   PubMed Web of Science ®Google Scholar
• Gutteridge J. M. C., Halliwell B. Iron toxicity and oxygen radicals. Baillieres Clin Haematol 1989; 2: 195–256
   PubMedGoogle Scholar
• Cunningham M. J., Macklin E. A., Neufeld E. J., Cohen A. R., for the Thalassemia Clinical Research network. Complications of β‐thalassemia major in North America. Blood 2004; 104: 34–9
   PubMed Web of Science ®Google Scholar
• Wood W. G. Increased HbF in adult life. Baillieres Clin Haematol 1993; 6: 177–213
   PubMed Web of Science ®Google Scholar
• Tuchinda S., Nagai K., Lehmann H. Oxygen dissociation curve of haemoglobin Portland. FEBS lett 1975; 49: 390–1
   PubMed Web of Science ®Google Scholar
• Yuan J., Bunyaratvej A., Fucharoen S., Fung C., Shinar E., Schrier S. L. The instability of the membrane skeleton in thalassemic red blood cells. Blood 1995; 86: 3945–50
   PubMed Web of Science ®Google Scholar
• Schrier S. L., Rachmilewitz E., Mohandas N. Cellular and membrane properties of alpha and beta thalassemic erythrocytes are different: implication for differences in clinical manifestations. Blood 1989; 74: 2194–202
   PubMed Web of Science ®Google Scholar
• Schrier S. L., Bunyaratvej A., Khuhupinant A., Fucharoen S., Aljurf M., Snyder L. M., et al. The unusual pathobiology of hemoglobin Constant Spring red blood cells. Blood 1997; 89: 1762–9
   PubMed Web of Science ®Google Scholar
• Pootrakul P., Sirankapracha P., Hemsorach S., Moungsub W., Kumbunlue R., Piangitjagum A., et al. A correlation of erythrokinetics, ineffective erythropoiesis, and erythroid precurser apoptosis in Thai patients with thalassemia. Blood 2000; 96: 2606–12
   PubMed Web of Science ®Google Scholar
• Cazzola M., DeStrfano P., Ponchio L., Locatelli F., Beguin Y., Dessi C., et al. Relationship between transfusion regimen and suppression of erythropoiesis in beta‐thalassaemia major. Br J Haematol 1995; 89: 473–8
   PubMed Web of Science ®Google Scholar
• Cappellini N, Cohen A, Eleftheriou A, Piga A, Porter J, eds. Guideline for the clinical management of thalassaemia. 2000, Nicosia, Cyprus, Thalassemia International Federation (TIF)
   Google Scholar
• Rebulla P., Modell B. Transfusion requirements and effects in patients with thalassaemia major. Lancet 1991; 337: 277–80
   PubMed Web of Science ®Google Scholar
• Taher A., Ismael H., Mehio G., Bignamini D., Kattamis A., Rachmilewitz E. A., et al. Prevalence of thromoboembolic events among 8860 patients with thalassaemia major and intermedia in the Mediterranean area and Iran. Thromb Haemost 2006; 96: 448–91
   Web of Science ®Google Scholar
• De Sanctis V. Growth and puperty and its management in thalassemia. Horm Res 2002; 58: 72–9
   PubMed Web of Science ®Google Scholar
• Brittenham G. M., Griffith P. M., Nienhuis A. W. Efficacy of desferrioxamine in preventing complications of iron overload in patients with thalassaemia major. N Engl J Med 1994; 331: 567–73
   PubMed Web of Science ®Google Scholar
• Angelucci E., Muretto P., Nicolucci, et al. Effects of iron overload in hepatitis C virus positivity in determining progression of liver fibrosis in thalassemia following bone marrow transplantation. Blood 2002; 100: 17–21
   PubMed Web of Science ®Google Scholar
• Anderson L. J., Holden S., Boris B., et al. Cardiovascular T2‐star (T2*) magnetic resonance for the early diagnosis of myocardial iron overload. Eur Heart J 2001; 22: 2171–9
   PubMed Web of Science ®Google Scholar
• Mancuso L., Panzarella G., Bartolotto T. V., Midri M., Renda D., Maggio A. Cardiac complications in thalassemia: non‐invasive methods and new directions in the clinical management. Exp Rev Cardvasc Ther 2003; 1: 439–42
   PubMedGoogle Scholar
• Porter J. B., Jaswon M. Desferrioxamine ototoxicity: evaluation of risk factors in thalassaemic patients and guidelines for safe dosages. Br J Haematol 1989; 73: 403–9
   PubMed Web of Science ®Google Scholar
• Anderson L. J., Wonke B., Prescott E., et al. Improved myocardial iron levels and ventricular function with oral deferiprone compared with subcutaneous desferrioxamine. Lancet 2002; 360: 516–20
   PubMed Web of Science ®Google Scholar
• Piga A., Gaglioti C., Fogliacco., Tricta F. Comparative effects of deferriprone and deferoxamine on survival and cardiac disease in patients with thalassemia major: a retrospective analysis. Haematologica 2003; 88: 489–96
   PubMed Web of Science ®Google Scholar
• Borgna‐Pignatti C., Cappellini M. D., Stafano P. D., Vecchio G. C. D., Forni G. L., Gamberini M. R., et al. Cardiac morbidity and mortality in deferoxamine‐ or deferiprone‐treated patients with thalassemia major. Blood 2006; 107: 3733–7
   PubMed Web of Science ®Google Scholar
• Pennell D. J., Berdoukas V., Karagiorga M., Ladis V., Piga A., Aessopos A., et al. Randomized controlled trial of deferiprone or deferoxamine in beta‐thalassemia major patients with asymptomatic myocardial siderosis. Blood 2006; 107: 3738–44
   PubMed Web of Science ®Google Scholar
• Westwood M. A., Wonke B., Maceira A. M., Prescott E., Walker J. M., Porter J. B., et al. Left ventricular diastolic function compared with T2* cardiovascular magnetic resonance for early detection of myocardial iron overload in thalassemia major. J Magn Reson Imaging 2005; 22: 229–33
   PubMed Web of Science ®Google Scholar
• Wonke B., Wright C., Hoffbrand A. V. Combined therapy with deferiprone and desferrioxamine.Br J Haematol. 1998; 103: 361–4
   Google Scholar
• Hoffbrand A. V. Deferiprone therapy for transfusional iron overload. Clin Haematol 2005; 18: 299–319
   Google Scholar
• Cappelini N. Iron‐chelating therapy with the new oral agent ICL670 (Exjade). Clin Haematol 2005; 18: 289–98
   Google Scholar
• Piga A., Galanello R., Forni G. L., Cappellini M. D., Origa R., Zappu A., et al. Randomized phase II trial of deferasirox (Exjade, ICL 670), a once‐daily, orally‐administered iron chelator in comparison to deferoxamine in thalassemic patients with transfusional iron overload. Haematologica 2006; 91: 873–80
   PubMed Web of Science ®Google Scholar
• Lucarelli G., Galimberti M., Polchi P., Angelucci E., Baronciani D., Giardini C., et al. Bone marrow transplantation in patients with thalassemia. N Engl J Med 1990; 322: 417–21
   PubMed Web of Science ®Google Scholar
• Gaziev J., Lucarelli G. Stem cell transplantation for thalassemia. Reprod Biomed Online 2005; 10: 111–15
   PubMed Web of Science ®Google Scholar
• Sodani P., Gaziev D., Polchi P., Erer B., Giardini C., Angelucci E., et al. New approach for bone marrow transplantation in patients with class 3 thalassemia younger than 17 years. Blood 2004; 104: 1201–3
   PubMed Web of Science ®Google Scholar
• Locatelli F., Rocha V., Reed W., Bernaudin F., Ertem M., Grafakos S., et al. Related umbilical cord blood transplantation in patients with thalassemia and sickle cell disease. Blood 2003; 101: 2137–43
   PubMed Web of Science ®Google Scholar
• Locatelli F. New insights into haematopoietic stem cell transplantation for patients with haemoglobinopathies. Br J Haematol 2004; 125: 3–11
   PubMed Web of Science ®Google Scholar
• Voskaridou E., Terpos E. New insights into the pathophysiology and management of osteoporosis in patients with thalassaemia. Br J Haematol 2004; 127: 127–39
   PubMed Web of Science ®Google Scholar
• Haacke E. M., Cheng N. Y., House M. J., Liu Q., Neelavalli J., Ogg R. J., et al. Imaging iron stores in the brain using magnetic resonance imaging. Magn Reson Imaging 2005; 1: 1–25
   Web of Science ®Google Scholar
• Olivieri N. F., Nathan D. G., MacMillan J. H., Wayne A. S., Liu P. P., McGee A., et al. Survival of medically treated patients with homozygous β‐thalassemia. N Engl J Med 1994; 331: 574–8
   PubMed Web of Science ®Google Scholar
• Fucharoen S., Winichagoon P. Hemoglobinopathies in Southeast Asia: molecular biology and clinical medicine. Hemoglobin 1997; 21: 299–319
   PubMed Web of Science ®Google Scholar
• Schrier S. L., Angelucci E. New strategies in the treatment of thalassemias. Ann Rev Med 2005; 56: 157–71
   PubMed Web of Science ®Google Scholar
• Singer T. S., Mignacca R., Coates T., Vichinsky E. Red blood cell characteristics in E/β. thalassemia and effects of hydroxyurea treatment. Blood 2001; 98: 23
   PubMed Web of Science ®Google Scholar
• Singer S. T., Styles L., Bojanowski J., Quirolo K., Foote D., Vichinsky E. P. Changing outcome of homozygous alpha‐thalassemia: cautious optimism. J Paediatr Hematol Oncol 2000; 22: 539–42
   PubMed Web of Science ®Google Scholar