Clinical manifestations of α-Thalassemia

Cold Spring Harbor Perspectives in Biology

Volumn 5, Issue 5, 2013, Pages

  Vichinsky, Elliott P ^a  

^a CHILDREN S HOSPITAL OAKLAND   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84877102409     PISSN: None     EISSN: 19430264     Source Type: Journal    
DOI: 10.1101/cshperspect.a011742     Document Type: Article

References (53)

1. Adam M.P., Chueh J, El-Sayed YY, Stenzel A, Vogel H, Weaver D.D., Hoyme HE. 2005. Vascular-type disruptive defects in fetuses with homozygous α-thalassemia: Report of two cases and review of the literature. Prenat Diagn 25: 1088-1096.
2. Au W.Y., Lam WW, Chu WW, Tam S, Wong WK, Lau J, Yeung Y.M., Liu HS, Liang R. 2009. Organ-specific hemosiderosis and functional correlation in Chinese patients with thalassemia intermedia and hemoglobin H disease. Ann Hematol 88: 947-950.
3. Benz EJ Jr. 2011. Newborn screening for α-thalassemia-keeping up with globalization. N Engl J Med364:770-771.
4. Carr S., Rubin L, Dixon D, Star J, Dailey J. 1995. Intrauterine therapy for homozygous α-thalassemia. Obstet Gynecol 85: 876-879.
5. Chan V., Chan VW, Tang M, Lau K, Todd D, Chan TK. 1997. Molecular defects in Hb H hydrops fetalis. Br J Haematol 96: 224-228.
6. Chan J.C., Chim CS, Ooi CG, Cheung B, Liang R, Chan TK, Chan V. 2006. Use of the oral chelator deferiprone in the treatment of iron overload in patients with Hb H disease. Br J Haematol 133: 198-205.
7. Chui D.H., Waye JS. 1998. Hydrops fetalis caused by α-thalassemia: An emerging health care problem. Blood 91: 2213-2222.
8. Chui DH, Fucharoen S, Chan V. 2003. HemoglobinHdisease: Not necessarily a benign disorder. Blood 101: 791-800.
9. Fucharoen S., Viprakasit V. 2009. Hb H disease: Clinical course and disease modifiers. Hematology Am Soc Hematol Educ Program 26-34.
10. Fucharoen S., Weatherall DJ. 2012. The hemoglobin E thalassemias. Cold Spring Harb Perspect Med 2: a011734.
11. Higgs DR. 2013. The molecular basis of α-thalassemia. Cold Spring Harb Perspect Med 3: a011718.
12. Hofstaetter C., Hansmann M, Eik-Nes SH, Huhta JC, Luther SL. 2006. A cardiovascular profile score in the surveillance of fetal hydrops. J Matern Fetal Neonatal Med 19: 407-413.
13. Hoppe CC. 2009. Newborn screening for non-sickling hemoglobinopathies. Hematology Am Soc Hematol Educ Program 19-25.
14. Kidd J.L., Azimi M, Lubin B, Vichinsky E, Hoppe C. 2010. Application of an expanded multiplex genotyping assay for the simultaneous detection of Hemoglobin Constant Spring and common deletional α-thalassemia mutations. Int J Lab Hematol 32: 373-380.
15. Lal A., Goldrich ML, Haines DA, Azimi M, Singer ST, Vichinsky EP. 2011. Heterogeneity of hemoglobin H disease in childhood. N Engl J Med 364: 710-718.
16. Lam Y.H., Tang MH. 2002. Middle cerebral artery Doppler study in fetuses with homozygous α-thalassaemia-1 at 12-13 weeks of gestation. Prenat Diagn 22: 56-58.
17. Lau Y.L., Chan LC, Chan YY, Ha SY, Yeung CY, Waye JS, Chui DH. 1997. Prevalence and genotypes of α-and β-thalassemia carriers in Hong-implications for population screening. N Engl J Med 336: 1298-1301.
18. Lee S.Y., Chow CB, Li CK, Chiu MC. 2007. Outcome of intensive care of homozygous α-thalassaemia without prior intra-uterine therapy. J Paediatr Child Health 43: 546-550.
19. Lettre G. 2012. The search for genetic modifiers of disease severity in the β-hemoglobinopathies. Cold Spring Harb Perspect Med 2: a015032.
20. Leung W.C., Oepkes D, Seaward G, Ryan G. 2002. Serial sonographic findings of four fetuses with homozygous α-thalassemia-1 from 21 weeks onwards. UltrasoundObstet Gynecol 19: 56-59.
21. Li D., Liao C, Li J, Xie X, Huang Y, Zhong H. 2006. Detection of α-thalassemia in β-thalassemia carriers and prevention of Hb Bart's hydrops fetalis through prenatal screening. Haematologica 91: 649-651.
22. Liang S.T., Wong VC, So WW, Ma HK, Chan V, Todd D. 1985. Homozygous α-thalassaemia: Clinical presentation, diagnosis and management. A reviewof 46 cases. Br JObstet Gynaecol 92: 680-684.
23. Liao C., Li Q, Wei J, Feng Q, Li J, Huang Y, Li D. 2007. Prenatal control of Hb Bart's disease in southern China. Hemoglobin 31: 471-475.
24. Lorey F., Cunningham G, Vichinsky EP, Lubin BH, Witkowska HE, Matsunaga A, Azimi M, Sherwin J, Eastman J, Farina F., et al. 2001a. Universal newborn screening for Hb H disease in California. Genet Test 5: 93-100.
25. Lorey F., Charoenkwan P, Witkowska HE, Lafferty J, Patterson M, Eng B, Waye JS, Finklestein JZ, Chui DH. 2001b. Hb H hydrops foetalis syndrome: A case report and review of literature. Br J Haematol 115: 72-78.
26. Lucke T., Pfister S, Durken M. 2005. Neurodevelopmental outcome and haematological course of a long-time survivor with homozygous α-thalassaemia: Case report and review of the literature. Acta Paediatr 94: 1330-1333.
27. Mari G., Deter RL, Carpenter RL, Rahman F, Zimmerman R, Moise KJ Jr, Dorman KF, Ludomirsky A, Gonzalez R, Gomez R., et al. 2000. Noninvasive diagnosis by Doppler ultrasonography of fetal anemia due to maternal red-cell alloimmunization. Collaborative Group for Doppler Assessment of the Blood Velocity in Anemic Fetuses. N Engl J Med 342: 9-14.
28. Michlitsch J., Azimi M, Hoppe C, Walters MC, Lubin B, Lorey F., Vichinsky E. 2009. Newborn screening for hemoglobinopathies in California. Pediatr Blood Cancer 52: 486-490.
29. Moise KJ Jr. 2008. The usefulness of middle cerebral artery Doppler assessment in the treatment of the fetus at risk for anemia. Am J Obstet Gynecol 198: e161-e164.
30. Musallam K.M., Taher AT, Rachmilewitz EA. 2012. β-Thalassemia intermedia: A clinical perspective. Cold Spring Harb Perspect Med 2: a013482.
31. Ne W, Harano K, Harano T, Kyaw S, Aye-Aye M, Khin T-A, Okada S. 2008. Hb Constant Spring [α142, Term → Gln (TAA > CAA in α2)] in the α-thalassemia of anemic patients in Myanmar. Hemoglobin 32: 454-461.
32. Oepkes D., Seaward PG, Vandenbussche FP, Windrim R, Kingdom J., Beyene J, Kanhai HH, Ohlsson A, Ryan G, DIAMOND Study Group. 2006. Doppler ultrasonography versus amniocentesis to predict fetal anemia. N Engl J Med 355: 156-164.
33. Pootrakul P., Sirankapracha P, Hemsorach S, Moungsub W, Jumbunlue R., Plangitjagum A, Wasl P, Ma L, Schrier SL. 2000. A correlation of erythrokinetics, ineffective erythropoiesis, and erythroid precursor apoptosis in Thai patients with thalassemia. Blood 96: 2606-2612.
34. Singer S.T., Styles L, Bojanowski J, Quirolo K, Foote D, Vichinsky EP. 2000. Changing outcome of homozygous α-thalassemia: Cautious optimism. J Pediatr Hematol Oncol 22: 539-542.
35. Singer S.T., Kim HY, Olivieri NF, Kwiatkowski JL, Coates TD, Carson S., Neufeld E, Cunningham MJ, Giardina PJ, Mueller B.U., et al. 2009. Hemoglobin H-constant spring in North America: An α thalassemia with frequent complications. Am J Hematol 84: 759-761.
36. 0-thalassemia determinants. Fetal Diagn Ther 22: 264-268.
37. Srisupundit K., Piyamongkol W, Tongsong T. 2008. Comparison of red blood cell hematology among normal, α-thalassemia-1 trait, and hemoglobin Bart's fetuses at midpregnancy. Am J Hematol 83: 908-910.
38. Styles L., Foote D, Kleman K, Vichinsky E. 1997. Hemoglobin H-Constant Spring disease: An under recognized, severe form of α thalassemia. Int J Pediatr Hematol Oncol 6: 69-74.
39. Suwanrath-Kengpol C, Kor-anantakul O, Suntharasaj T, Leetanaporn R. 2005. Etiology and outcome of non-immune hydrops fetalis in southern Thailand. Gynecol Obstet Invest 59: 134-137.
40. Tso S.C., Chan TK, Todd D. 1982. Venous thrombosis in haemoglobin H disease after splenectomy. Aust NZ J Med 12: 635-638.
41. Vichinsky EP. 2009. α Thalassemia major-new mutations, intrauterine management, and outcomes. Hematology Am Soc Hematol Educ Program 35-41.
42. Vichinsky E. 2010. Complexity of α thalassemia: Growing health problem with new approaches to screening, diagnosis, and therapy. Ann NY Acad Sci 1202: 180-187.
43. Vichinsky E. 2012. Advances in the treatment of α-thalassemia. Blood Rev 26: S31-S34.
44. Vichinsky E., Chu J, Walters M, et al. 2010. Successful hematopoietic cell transplantation for α thalassemia major. Pediatr Blood Cancer 54: 840.
45. Weatherall DJ. 2008. Hemoglobinopathies worldwide: Present and future. Curr Mol Med 8: 592-599.
46. Weatherall D. J, Clegg JB, ed. 2001. The thalassaemia syndromes, 4th ed. Blackwell Science, Malden, MA.
47. Weisz B., Rosenbaum O, Chayen B, Peltz R, Feldman B, Lipitz S. 2009. Outcome of severely anaemic fetuses treated by intrauterine transfusions. Arch Dis Child Fetal Neonatal Ed 94: F201-F204.
48. Williams T.N., Weatherall DJ. 2012. World distribution, population genetics, and health burden of the hemoglobinopathies. Cold Spring Harbor Perspect Med 2: a11692.
49. Yang Y., Li DZ. 2009. A survey of pregnancies with Hb Bart's disease in Mainland China. Hemoglobin 33: 132-136.
50. Yi J.S., Moertel CL, Baker KS. 2009. Homozygous α-thalassemia treated with intrauterine transfusions and unrelated donor hematopoietic cell transplantation. J Pediatr 154: 766-768.
51. Yuan J., Bunyaratvej A, Fucharoen S, Fung C, Shinar E, Schrier SL. 1995. The instability of the membrane skeleton in thalassemic red blood cells. Blood 86: 3945-3950.
52. Zhou X., Ha SY, Chan GC, Luk CW, Chan V, Hawkins B, Lam Y.H., Liang RH, Lau YL. 2001. Successful mismatched sibling cord blood transplant in Hb Bart's disease. Bone Marrow Transplant 28: 105-107.
53. Zimmerman R., Carpenter RJ Jr, Durig P, Mari G. 2002. Longitudinal measurement of peak systolic velocity in the fetal middle cerebral artery for monitoring pregnancies complicated by red cell alloimmunisation: A prospective multicentre trial with intention-to-treat. BJOG 109: 746-752.