Talassemia alfa

Referências

Principais artigos

Higgs DR, Bowden DK. Clinical and laboratory features of the alpha-thalassemia syndromes. In: Steinberg M, Forget B, Higgs DR, et al., eds. Disorders of hemoglobin. New York, NY: Cambridge University Press; 2001:431-69.

Pootrakul P, Sirankapracha P, Hemsorach S, et al. A correlation of erythrokinetics, ineffective erythropoiesis, and erythroid precursor apoptosis in Thai patients with thalassemia. Blood. 2000 Oct 1;96(7):2606-12. Resumo

Schrier SL, Rachmilewitz E, Mohandas N. Cellular and membrane properties of alpha and beta thalassemic erythrocytes are different: implication for differences in clinical manifestations. Blood. 1989 Nov 1;74(6):2194-202.Texto completo  Resumo

Chui DH, Fucharoen S, Chan V. Hemoglobin H disease: not necessarily a benign disorder. Blood. 2003 Feb 1;101(3):791-800. Resumo

Lal A, Goldrich ML, Haines DA, et al. Heterogeneity of hemoglobin H disease in childhood. N Engl J Med. 2011 Feb 24;364(8):710-8.Texto completo  Resumo

Artigos de referência

1. Weatherall D. The molecular basis for phenotypic variability of the common thalassaemias. Mol Med Today. 1995 Apr;1(1):15-20. Resumo

2. Ribeiro DM, Sonati MF. Regulation of human alpha-globin gene expression and alpha-thalassemia. Genet Mol Res. 2008 Oct 14;7(4):1045-53.Texto completo  Resumo

3. Vichinsky E. Complexity of alpha thalassemia: growing health problem with new approaches to screening, diagnosis, and therapy. Ann N Y Acad Sci. 2010;1202:180-187. Resumo

4. Harteveld CL, Higgs DR. Alpha-thalassemia. Orphanet J Rare Dis. 2010 May 28;5:13.Texto completo  Resumo

5. Chen FE, Ooi C, Ha SY, et al. Genetic and clinical features of hemoglobin H disease in Chinese patients. N Engl J Med. 2000 Aug 24;343(8):544-50.Texto completo  Resumo

6. Wasi P, Na-Nakorn S, Pootrakul S, et al. Alpha- and beta-thalassemia in Thailand. Ann N Y Acad Sci. 1969 Nov 20;165(1):60-82. Resumo

7. Pootrakul P, Winichagoon P, Fucharoen S, et al. Homozygous haemoglobin Constant Spring: a need for revision of concept. Hum Genet. 1981;59(3):250-5. Resumo

8. Henderson S, Chapple M, Rugless M, et al. Haemoglobin H hydrops fetalis syndrome associated with homozygosity for the alpha2-globin gene polyadenylation signal mutation AATAAA-->AATA--. Br J Haematol. 2006 Dec;135(5):743-5.Texto completo  Resumo

9. Higgs DR, Bowden DK. Clinical and laboratory features of the alpha-thalassemia syndromes. In: Steinberg M, Forget B, Higgs DR, et al., eds. Disorders of hemoglobin. New York, NY: Cambridge University Press; 2001:431-69.

10. Vichinsky EP, MacKlin EA, Waye JS, et al. Changes in the epidemiology of thalassemia in North America: a new minority disease. Pediatrics. 2005;116:e818-e825.Texto completo  Resumo

11. Lorey F, Cunningham G, Vichinsky EP, et al. Universal newborn screening for Hb H disease in California. Genet Test. 2001;5:93-100. Resumo

12. Chan V, Chan VW, Tang M, et al. Molecular defects in Hb H hydrops fetalis. Br J Haematol. 1997;96:224-228. Resumo

13. Chui DH, Waye JS. Hydrops fetalis caused by alpha-thalassemia: an emerging health care problem. Blood. 1998;91:2213-2222. Resumo

14. Gibbons RJ, Brueton L, Buckle VJ, et al. Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X). Am J Med Genet. 1995;55:288-299. Resumo

15. Alli NA. Acquired haemoglobin H disease. Hematology. 2005;10:413-418. Resumo

16. Boehme WM, Piira TA, Kurnick JE, et al. Acquired hemoglobin H in refractor sideroblastic anemia: a preleukemic marker. Arch Intern Med. 1978;138:603-606. Resumo

17. Steensma DP, Gibbons RJ, Higgs DR. Acquired alpha-thalassemia in association with myelodysplastic syndrome and other hematologic malignancies. Blood. 2005;105:443-452. Resumo

18. Flint J, Hill AV, Bowden DK, et al. High frequencies of alpha-thalassaemia are the result of natural selection by malaria. Nature. 1986 Jun 19-25;321(6072):744-50. Resumo

19. Association of Public Health Laboratories; Centers for Disease Control and Prevention. Hemoglobinopathies: current practices for screening, confirmation and follow-up. December 2015 [internet publication].Texto completo

20. Bernini LF. Geographic distribution of alpha thalassemia. In: Steinberg M, Forget B, Higgs D, et al, eds. Disorders of hemoglobin. New York, NY: Cambridge University Press; 2001:878-94.

21. Weatherall DJ. The definition and epidemiology of non-transfusion-dependent thalassemia. Blood Rev. 2012 Apr;26(suppl 1):S3-S6. Resumo

22. Beutler E, West C. Hematologic differences between African-Americans and whites: the roles of iron deficiency and alpha-thalassemia on hemoglobin levels and mean corpuscular volume. Blood. 2005 Jul 15;106(2):740-5.Texto completo  Resumo

23. Liebhaber SA, Cash FE, Ballas SK. Human alpha-globin gene expression: the dominant role of the alpha 2-locus in mRNA and protein synthesis. J Biol Chem. 1986;261:15327-15333.Texto completo  Resumo

24. Benesch RE, Ranney HM, Benesch R, et al. The chemistry of the Bohr effect: some properties of hemoglobin H. J Biol Chem. 1961 Nov;236:2926-9Texto completo  Resumo

25. Rigas DA, Koler RD. Decreased erythrocyte survival in hemoglobin H disease as a result of the abnormal properties of hemoglobin H: the benefit of splenectomy. Blood. 1961 Jul;18:1-17.Texto completo  Resumo

26. Gabuzda TG, Nathan DG, Gardner FH. The metabolism of the individual C14-labeled hemoglobins in patients with H-thalassemia, with observations on radiochromate binding to the hemoglobins during red cell survival. J Clin Invest. 1965 Feb;44:315-25.Texto completo  Resumo

27. Pootrakul P, Sirankapracha P, Hemsorach S, et al. A correlation of erythrokinetics, ineffective erythropoiesis, and erythroid precursor apoptosis in Thai patients with thalassemia. Blood. 2000 Oct 1;96(7):2606-12. Resumo

28. Schrier SL, Rachmilewitz E, Mohandas N. Cellular and membrane properties of alpha and beta thalassemic erythrocytes are different: implication for differences in clinical manifestations. Blood. 1989 Nov 1;74(6):2194-202.Texto completo  Resumo

29. Schrier SL, Bunyaratvej A, Khuhapinant A, et al. The unusual pathobiology of hemoglobin constant spring red blood cells. Blood. 1997 Mar 1;89(5):1762-9. Resumo

30. Rachmilewitz EA, Peisach J, Bradley TB, et al. Role of haemichromes in the formation of inclusion bodies in haemoglobin H disease. Nature. 1969 Apr 19;222(5190):248-50. Resumo

31. Waugh SM, Low PS. Hemichrome binding to band 3: nucleation of Heinz bodies on the erythrocyte membrane. Biochemistry. 1985 Jan 1;24(1):34-9. Resumo

32. Kuypers FA, Yuan J, Lewis RA, et al. Membrane phospholipid asymmetry in human thalassemia. Blood. 1998 Apr 15;91(8):3044-51. Resumo

33. Chui DH, Fucharoen S, Chan V. Hemoglobin H disease: not necessarily a benign disorder. Blood. 2003 Feb 1;101(3):791-800. Resumo

34. Wu JH, Shih LY, Kuo TT, et al. Intrathoracic extramedullary hematopoietic tumor in hemoglobin H disease. Am J Hematol. 1992 Dec;41(4):285-8. Resumo

35. Benz EJ Jr, Wu CC, Sohani AR. Case records of the Massachusetts General Hospital. Case 25-2011. A 62-year-old woman with anemia and paraspinal masses. N Engl J Med. 2011 Aug 18;365(7):648-58. Resumo

36. Old JM. DNA-based diagnosis of the hemoglobin disorders. In: Steinberg M, Forget B, Higgs DR, et al., eds. Disorders of hemoglobin. New York, NY: Cambridge University Press; 2001:941-57.

37. Harteveld CL, Voskamp A, Phylipsen M, et al. Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification. J Med Genet. 2005 Dec;42(12):922-31. Resumo

38. Liu JZ, Han H, Schouten JP, et al. Detection of alpha-thalassemia in China by using multiplex ligation-dependent probe amplification. Hemoglobin. 2008;32(6):561-71. Resumo

39. Northern California Comprehensive Thalassemia Center. Standards of care guidelines for thalassemia. 2012 [internet publication].Texto completo

40. Wood JC. Diagnosis and management of transfusion iron overload: the role of imaging. Am J Hematol. 2007 Dec;82(suppl 12):1132-5.Texto completo  Resumo

41. Porter J, Viprakasit V, Kattamis A. Iron overload and chelation. In: Cappellini MD, Cohen A, Porter J, et al., eds. Guidelines for the management of transfusion dependent thalassaemia (TDT). 3rd ed. Nicosia, CY: Thalassaemia International Federation; 2014 [internet publication].Texto completo

42. Lal A, Goldrich ML, Haines DA, et al. Heterogeneity of hemoglobin H disease in childhood. N Engl J Med. 2011 Feb 24;364(8):710-8.Texto completo  Resumo

43. Yin XL, Zhang XH, Zhou TH, et al. Hemoglobin H disease in Guangxi province, Southern China: clinical review of 357 patients. Acta Haematol. 2010;124(2):86-91. Resumo

44. Fucharoen G, Trithipsombat J, Sirithawee S, et al. Molecular and hematological profiles of hemoglobin EE disease with different forms of alpha-thalassemia. Ann Hematol. 2006 Jul;85(7):450-4. Resumo

45. Carmel R. Pernicious anemia: the expected findings of very low serum cobalamin levels, anemia, and macrocytosis are often lacking. Arch Intern Med. 1988 Aug;148(8):1712-4. Resumo

46. Healton EB, Savage DG, Brust JC, et al. Neurologic aspects of cobalamin deficiency. Medicine (Baltimore). 1991 Jul;70(4):229-45. Resumo

47. Ryan K, Bain BJ, Worthington D, et al; British Committee for Standards in Haematology. Significant haemoglobinopathies: guidelines for screening and diagnosis. Br J Haematol. 2010 Apr;149(1):35-49.Texto completo  Resumo

48. Leung TN, Lau TK, Chung T. Thalassaemia screening in pregnancy. Curr Opin Obstet Gynecol. 2005 Apr;17(2):129-34. Resumo

49. Langlois S, Ford JC, Chitayat D, et al; CCMG Prenatal Diagnosis Committee; SOGC Genetic Committee. Carrier screening for thalassemia and hemoglobinopathies in Canada. J Obstet Gynaecol Can. 2008 Oct;30(10):950-9. Resumo

50. Dormandy E, Bryan S, Gulliford MC, et al. Antenatal screening for haemoglobinopathies in primary care: a cohort study and cluster randomised trial to inform a simulation model. The Screening for Haemoglobinopathies in First Trimester (SHIFT) trial. Health Technol Assess. 2010 Apr;14(20):1-160. Resumo

51. Dormandy E, Gulliford M, Bryan S, et al. Effectiveness of earlier antenatal screeningfor sickle cell disease and thalassaemia in primary care: cluster randomised trial. BMJ. 2010 Oct 5;341:c5132.Texto completo  Resumo

52. ACOG Committee on Obstetrics. ACOG practice bulletin no. 78: hemoglobinopathies in pregnancy. Obstet Gynecol. 2007 Jan;109(1):229-37. Resumo

53. Tongsong T, Wanapirak C, Sirichotiyakul S, et al. Sonographic markers of hemoglobin Bart disease at midpregnancy. J Ultrasound Med. 2004 Jan;23(1):49-55. Resumo

54. Li X, Zhou Q, Zhang M, et al. Sonographic markers of fetal α-thalassemia major. J Ultrasound Med. 2015 Feb;34(2):197-206. Resumo

55. Society for Maternal-Fetal Medicine; Norton ME, Chauhan SP, Dashe JS. Society for maternal-fetal medicine (SMFM) clinical guideline #7: nonimmune hydrops fetalis. Am J Obstet Gynecol. 2015 Feb;212(2):127-39.Texto completo  Resumo

56. Michlitsch J, Azimi M, Hoppe C, et al. Newborn screening for hemoglobinopathies in California. Pediatr Blood Cancer. 2009 Apr;52(4):486-90. Resumo

57. Kemper AR, Knapp AA, Metterville DR, et al. Weighing the evidence for newborn screening for Hemoglobin H disease. J Pediatr. 2011 May;158(5):780-3. Resumo

58. Vichinsky EP. Clinical manifestations of α-thalassemia. Cold Spring Harb Perspect Med. 2013 May 1;3(5):a011742.Texto completo  Resumo

59. Vogiatzi MG, Macklin EA, Fung EB, et al. Bone disease in thalassemia: a frequent and still unresolved problem. J Bone Miner Res. 2009 Mar;24(3):543-57.Texto completo  Resumo

60. Beutler E. G6PD deficiency. Blood. 1994 Dec 1;84(11):3613-36.Texto completo  Resumo

61. Hsu HC, Lin CK, Tsay SH, et al. Iron overload in Chinese patients with hemoglobin H disease. Am J Hematol. 1990 Aug;34(4):287-90. Resumo

62. Tso SC, Loh TT, Chen WW, et al. Iron overload in thalassaemic patients in Hong Kong. Ann Acad Med Singapore. 1984 Jul;13(3):487-90. Resumo

63. Kattamis A, Papassotiriou I, Palaiologou D, et al. The effects of erythropoetic activity and iron burden on hepcidin expression in patients with thalassemia major. Haematologica. 2006 Jun;91(6):809-12. Resumo

64. Lin CK, Lin JS, Jiang ML. Iron absorption is increased in hemoglobin H diseases. Am J Hematol. 1992 May;40(1):74-5. Resumo

65. Thalassaemia International Federation. Guidelines for the management of non-transfusion dependent thalassaemias (2nd edition). 2017 [internet publication].Texto completo

66. Thalassemia Foundation of Canada. Guidelines for the clinical care of patients with thalassemia in Canada. 2016 [internet publication].Texto completo

67. Musallam KM, Cappellini MD, Taher AT. Evaluation of the 5mg/g liver iron concentration threshold and its association with morbidity in patients with β-thalassemia intermedia. Blood Cells Mol Dis. 2013 Jun;51(1):35-8. Resumo

68. US Food and Drug Administration. Exjade (deferasirox): boxed warning. October 2013 [internet publication].Texto completo

69. Taher AT, Porter J, Viprakasit V, et al. Deferasirox reduces iron overload significantly in nontransfusion-dependent thalassemia: 1-year results from a prospective, randomized, double-blind, placebo-controlled study. Blood. 2012 Aug 2;120(5):970-7.Texto completo  Resumo

70. Taher AT, Porter JB, Viprakasit V, et al. Deferasirox effectively reduces iron overload in non-transfusion-dependent thalassemia (NTDT) patients: 1-year extension results from the THALASSA study. Ann Hematol. 2013 Nov;92(11):1485-93.Texto completo  Resumo

71. Xia S, Zhang W, Huang L, et al. Comparative efficacy and safety of deferoxamine, deferiprone and deferasirox on severe thalassemia: a meta-analysis of 16 randomized controlled trials. PLoS One. 2013 Dec 23;8(12):e82662.Texto completo  Resumo

72. Cappellini MD, Cohen A, Piga A, et al. A phase 3 study of deferasirox (ICL670), a once-daily oral iron chelator, in patients with beta-thalassemia. Blood. 2006 May 1;107(9):3455-62.Texto completo  Resumo

73. Anderson LJ, Westwood MA, Holden S, et al. Myocardial iron clearance during reversal of siderotic cardiomyopathy with intravenous desferrioxamine: a prospective study using T2* cardiovascular magnetic resonance. Br J Haematol. 2004 Nov;127(3):348-55. Resumo

74. Schrier S. New treatment options for thalassemia. Clin Adv Hematol Oncol. 2004 Dec;2(12):783-4. Resumo

75. Kopterides P, Tsangaris I, Orfanos S. Do not forget pulmonary hypertension in asplenic patients. Am J Med. 2008 Nov;121(11):e21. Resumo

76. Phrommintikul A, Sukonthasarn A, Kanjanavanit R, et al. Splenectomy: a strong risk factor for pulmonary hypertension in patients with thalassaemia. Heart. 2006 Oct;92(10):1467-72. Resumo

77. Cohen AR, Galanello R, Pennell DJ, et al. Thalassemia. Hematology Am Soc Hematol Educ Program. 2004:14-34.Texto completo  Resumo

78. Singer ST, Wu V, Mignacca R, et al. Alloimmunization and erythrocyte autoimmunization in transfusion-dependent thalassemia patients of predominantly Asian descent. Blood. 2000 Nov 15;96(10):3369-73. Resumo

79. Cogliandro T, Derchi G, Mancuso L, et al; Society for the Study of Thalassemia and Hemoglobinopathies (SoSTE). Guideline recommendations for heart complications in thalassemia major. J Cardiovasc Med (Hagerstown). 2008 May;9(5):515-25. Resumo

80. Lorey F, Charoenkwan P, Witkowska HE, et al. Hb H hydrops foetalis syndrome: a case report and review of literature. Br J Haematol. 2001 Oct;115(1):72-8.Texto completo  Resumo

81. Henderson S, Pitman M, McCarthy J, et al. Molecular prenatal diagnosis of Hb H hydrops fetalis caused by haemoglobin Adana and the implications to antenatal screening for alpha-thalassaemia. Prenat Diagn. 2008 Sep;28(9):859-61. Resumo

82. Liang ST, Wong VC, So WW, et al. Homozygous alpha-thalassaemia: clinical presentation, diagnosis and management: a review of 46 cases. Br J Obstet Gynaecol. 1985 Jul;92(7):680-4. Resumo

83. Brown KE, Young NS. Parvovirus B19 infection and hematopoiesis. Blood Rev. 1995 Sep;9(3):176-82. Resumo

84. Taher A, Porter J, Viprakasit V, et al. Estimation of liver iron concentration by serum ferritin measurement in non-transfusion-dependent thalassemia patients: analysis from the 1-year THALASSA study. Haematologica. 2012;97(s1):383.Texto completo

85. Vichinsky E. Clinical application of deferasirox: practical patient management. Am J Hematol. 2008 May;83(5):398-402.Texto completo  Resumo

86. Price VE, Dutta S, Blanchette VS, et al. The prevention and treatment of bacterial infections in children with asplenia or hyposplenia: practice considerations at the Hospital for Sick Children, Toronto. Pediatr Blood Cancer. 2006 May 1;46(5):597-603. Resumo

87. Sukenik-Halevy R, Ellis MH, Fejgin MD. Management of immune thrombocytopenic purpura in pregnancy. Obstet Gynecol Surv. 2008 Mar;63(3):182-8. Resumo

88. Nassar AH, Usta IM, Rechdan JB, et al. Pregnancy in patients with beta-thalassemia intermedia: outcome of mothers and newborns. Am J Hematol. 2006 Jul;81(7):499-502.Texto completo  Resumo

89. Tuck SM. Fertility and pregnancy in thalassemia major. Ann N Y Acad Sci. 2005;1054:300-7. Resumo

90. Borgna-Pignatti C. Modern treatment of thalassaemia intermedia. Br J Haematol. 2007;138:291-304.Texto completo  Resumo

91. Hacein-Bey-Abina S, Von Kalle C, Schmidt M, et al. LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1. Science. 2003;302:415-419. Resumo

92. Hahn S, Zhong XY, Holzgreve W. Recent progress in non-invasive prenatal diagnosis. Semin Fetal Neonatal Med. 2008;13:57-62. Resumo

93. Singer ST, Vichinsky EP, Sweeters N, et al. Darbepoetin alfa for the treatment of anaemia in alpha- or beta- thalassaemia intermedia syndromes. Br J Haematol. 2011;154:281-284.Texto completo  Resumo

94. Fortenko OM, Schaef Johns GJ, Kudva GC. Erythropoietin for hemoglobin H disease. Ann Hematol. 2009;88:179-180. Resumo

95. Zhou X, Ha SY, Chan GC, et al. Successful mismatched sibling cord blood transplant in Hb Bart's disease. Bone Marrow Transplant. 2001 Jul;28(1):105-7.Texto completo  Resumo

96. Gibbons RJ, Higgs DR. The alpha thalassemia/mental retardation syndromes. In: Steinberg M, Forget B, Higgs DR, et al, eds. Disorders of hemoglobin. New York, NY: Cambridge University Press; 2001:470-88.

97. Klein HG, Spahn DR, Carson JL. Red blood cell transfusion in clinical practice. Lancet. 2007 Aug 4;370(9585):415-26. Resumo

98. Cunningham MJ, Macklin EA, Neufeld EJ, et al. Complications of beta-thalassemia major in North America. Blood. 2004 Jul 1;104(1):34-9. Resumo

99. Alavian SM, Tabatabaei SV. Treatment of chronic hepatitis C in polytransfused thalassaemic patients: a meta-analysis. J Viral Hepat. 2010 Apr;17(4):236-44. Resumo

O uso deste conteúdo está sujeito ao nosso aviso legal