HbE/β-thalassemia: Basis of marked clinical diversity

Hematology/Oncology Clinics of North America

Volumn 24, Issue 6, 2010, Pages 1055-1070

  Olivieri, Nancy F ^a,b   Pakbaz, Zahra ^c   Vichinsky, Elliott ^d  

^a UNIVERSITY OF TORONTO   (Canada)

^b UNIVERSITY HEALTH NETWORK   (Canada)

^c CHILDREN S HOSPITAL OAKLAND RESEARCH INSTITUTE   (United States)

^d CHILDREN S HOSPITAL OAKLAND   (United States)

Author keywords

Diversity; Genotype; Hemoglobin E thalassemia; Modifiers; Phenotype

Indexed keywords

BILIRUBIN; HEMOGLOBIN E; IRON;

ALLELE; ALPHA THALASSEMIA; ANEMIA; BETA THALASSEMIA; BILIRUBIN METABOLISM; DISEASE SEVERITY; GENETIC HETEROGENEITY; HUMAN; INHERITANCE; MALARIA; PATHOPHYSIOLOGY; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; REVIEW;

ALPHA-THALASSEMIA; BETA-THALASSEMIA; FETAL HEMOGLOBIN; GENETIC HETEROGENEITY; HEMOGLOBIN E; HUMANS; MUTATION; POLYMORPHISM, GENETIC;

EID: 78249279353     PISSN: 08898588     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.hoc.2010.08.008     Document Type: Review

References (77)

1. Modell B., Darlison M. Global epidemiology of haemoglobin disorders and derived service indicators. Bull World Health Organ 2008, 86(6):480-487.
2. Chen S., Eldor A., Barshtein G., et al. Enhanced aggregability of red blood cells of beta-thalassemia major patients. Am J Physiol 1996, 270(6 Pt 2):H1951-H1956.
3. de Silva S., Fisher C.A., Premawardhena A., et al. Thalassaemia in Sri Lanka: implications for the future health burden of Asian populations. Sri Lanka Thalassaemia Study Group. Lancet 2000, 355(9206):786-791.
4. Premawardhena A., De Silva S., Arambepola M., et al. Thalassemia in Sri Lanka: a progress report. Hum Mol Genet 2004, 13(Spec No 2):R203-R206.
5. Vichinsky E.P. Report of proceedings: 1999 international conference on E-B thalassemia. J Pediatr Hematol Oncol 2000, 22(6):550.
6. Weatherall D.J., Clegg J.B. Inherited haemoglobin disorders: an increasing global health problem. Bull World Health Organ 2001, 79(8):704-712.
7. WHO Guidelines for the control of haemoglobin disorders. Report of the VIth Annual Meeting of the WHO Working Group on Haemoglobinopathies 1989, World Health Organization, Geneva (Switzerland), Cagliairi, Sardinia.
8. Weatherall D.J., Clegg J.B. The thalassaemia syndromes 2001, Blackwell Science Ltd, Oxford (UK). 4th edition.
9. Flint J., Harding R.M., Boyce A.J., et al. The population genetics of the haemoglobinopathies. Baillière's clinical haematology; 'Haemoglobinopathies' 1998, 1-51. Baillière Tindall and WB Saunders, London. D.R. Higgs, D. Weatherall (Eds.).
10. Angastiniotis M., Modell B. Global epidemiology of hemoglobin disorders. Ann N Y Acad Sci 1998, 850:251-269.
11. Lorey F. Asian immigration and public health in California: thalassemia in newborns in California. J Pediatr Hematol Oncol 2000, 22(6):564-566.
12. Lorey F., Charoenkwan P., Witkowska H.E., et al. Hb H hydrops foetalis syndrome: a case report and review of literature. Br J Haematol 2001, 115(1):72-78.
13. Lorey F., Cunningham G., Vichinsky E.P., et al. Universal newborn screening for Hb H disease in California. Genet Test 2001, 5(2):93-100.
14. Weatherall D.J. The inherited diseases of hemoglobin are an emerging global health burden. Blood 2010, 115:4331-4336.
15. Weatherall D.J., Clegg J.B. Thalassemia-a global public health problem. Nat Med 1996, 2(8):847-849.
16. Rees D.C., Styles L., Vichinsky E.P., et al. The hemoglobin E syndromes. Ann N Y Acad Sci 1998, 850:334-343.
17. Agarwal S., Gulati R., Singh K. Hemoglobin E-beta thalassemia in Uttar Pradesh. Indian Pediatr 1997, 34(4):287-292.
18. Chernoff A.I., Minnich V., Nanakorn S., et al. Studies on hemoglobin E.I. The clinical, hematologic, and genetic characteristics of the hemoglobin E syndromes. J Lab Clin Med 1956, 47(3):455-489.
19. Chhotray G.P., Dash B.P., Ranjit M.R., et al. Haemoglobin E/beta-thalassaemia - an experience in the eastern Indian state of Orissa. Acta Haematol 2003, 109(4):214-216.
20. De M., Das S.K., Bhattacharya D.K., et al. The occurrence of beta-thalassemia mutation and its interaction with hemoglobin E in the eastern India. Int J Hematol 1997, 66(1):31-34.
21. Fucharoen S., Winichagoon P. Hemoglobinopathies in Southeast Asia. Hemoglobin 1987, 11(1):65-88.
22. George E., Wong H.B. Hb E beta +-thalassaemia in west Malaysia: clinical features in the most common beta-thalassaemia mutation of the Malays [IVS 1-5 (G→C)]. Singapore Med J 1993, 34(6):500-503.
23. Piplani S. Hemoglobin E disorders in the North East India. J Assoc Physicians India 2000, 48(11):1082-1084.
24. Premawardhena A., Fisher C.A., Olivieri N.F., et al. Haemoglobin E beta thalassaemia in Sri Lanka. Lancet 2005, 366(9495):1467-1470.
25. Wasi P., Na-Nakorn S., Pootrakul S., et al. Alpha- and beta-thalassemia in Thailand. Ann N Y Acad Sci 1969, 165(1):60-82.
26. Winichagoon P., Fucharoen S., Chen P., et al. Genetic factors affecting clinical severity in beta-thalassemia syndromes. J Pediatr Hematol Oncol 2000, 22(6):573-580.
27. Winichagoon P., Thonglairoam V., Fucharoen S., et al. Severity differences in beta-thalassaemia/haemoglobin E syndromes: implication of genetic factors. Br J Haematol 1993, 83(4):633-639.
28. Fucharoen S., Ketvichit P., Pootrakul P., et al. Clinical manifestation of beta-thalassemia/hemoglobin E disease. J Pediatr Hematol Oncol 2000, 22(6):552-557.
29. Weatherall D.J. Hemoglobin E beta-thalassemia: an increasingly common disease with some diagnostic pitfalls. J Pediatr 1998, 132(5):765-767.
30. Orkin S.H., Kazazian H.H., Antonarakis S.E., et al. Abnormal RNA processing due to the exon mutation of beta E-globin gene. Nature 1982, 300(5894):768-769.
31. Datta P., Basu S., Chakravarty S.B., et al. Enhanced oxidative cross-linking of hemoglobin E with spectrin and loss of erythrocyte membrane asymmetry in hemoglobin Ebeta-thalassemia. Blood Cells Mol Dis 2006, 37(2):77-81.
32. 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, 96(7):2606-2612.
33. Jetsrisuparb A., Sanchaisuriya K., Fucharoen G., et al. Development of severe anemia during fever episodes in patients with hemoglobin E trait and hemoglobin H disease combinations. J Pediatr Hematol Oncol 2006, 28(4):249-253.
34. Sripichai O., Makarasara W., Munkongdee T., et al. A scoring system for the classification of beta-thalassemia/Hb E disease severity. Am J Hematol 2008, 83(6):482-484.
35. Olivieri N.F., Brittenham G.M. Iron-chelating therapy and the treatment of thalassemia. Blood 1997, 89(3):739-761.
36. Olivieri N.F., Muraca G.M., O'Donnell A., et al. Studies in haemoglobin E beta-thalassaemia. Br J Haematol 2008, 141(3):388-397.
37. Panigrahi I., Agarwal S., Gupta T., et al. Hemoglobin E-beta thalassemia: factors affecting phenotype. Indian Pediatr 2005, 42(4):357-362.
38. Winichagoon P., Fucharoen S., Weatherall D., et al. Concomitant inheritance of alpha-thalassemia in beta 0-thalassemia/Hb E disease. Am J Hematol 1985, 20(3):217-222.
39. Sripichai O., Munkongdee T., Kumkhaek C., et al. Coinheritance of the different copy numbers of alpha-globin gene modifies severity of beta-thalassemia/Hb E disease. Ann Hematol 2008, 87(5):375-379.
40. Sharma V., Saxena R. Effect of alpha-gene numbers on phenotype of HbE/beta thalassemia patients. Ann Hematol 2009, 88(10):1035-1036.
41. Menzel S., Garner C., Gut I., et al. A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15. Nat Genet 2007, 39(10):1197-1199.
42. Gibney G.T., Panhuysen C.I., So J.C., et al. Variation and heritability of Hb F and F-cells among beta-thalassemia heterozygotes in Hong Kong. Am J Hematol 2008, 83(6):458-464.
43. Garner C., Tatu T., Reittie J.E., et al. Genetic influences on F cells and other hematologic variables: a twin heritability study. Blood 2000, 95(1):342-346.
44. Ma Q., Abel K., Sripichai O., et al. Beta-globin gene cluster polymorphisms are strongly associated with severity of HbE/beta(0)-thalassemia. Clin Genet 2007, 72(6):497-505.
45. Nuntakarn L., Fucharoen S., Fucharoen G., et al. Molecular, hematological and clinical aspects of thalassemia major and thalassemia intermedia associated with Hb E-beta-thalassemia in Northeast Thailand. Blood Cells Mol Dis 2009, 42(1):32-35.
46. Thein S.L., Menzel S., Peng X., et al. Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults. Proc Natl Acad Sci U S A 2007, 104(27):11346-11351.
47. Garner C., Menzel S., Martin C., et al. Interaction between two quantitative trait loci affects fetal haemoglobin expression. Ann Hum Genet 2005, 69(Pt 6):707-714.
48. Dover G.J., Smith K.D., Chang Y.C., et al. Fetal hemoglobin levels in sickle cell disease and normal individuals are partially controlled by an X-linked gene located at Xp22.2. Blood 1992, 80(3):816-824.
49. Sedgewick A.E., Timofeev N., Sebastiani P., et al. BCL11A is a major HbF quantitative trait locus in three different populations with beta-hemoglobinopathies. Blood Cells Mol Dis 2008, 41(3):255-258.
50. Sripichai O., Whitacre J., Munkongdee T., et al. Genetic analysis of candidate modifier polymorphisms in Hb E-beta 0-thalassemia patients. Ann N Y Acad Sci 2005, 1054:433-438.
51. Nuinoon M., Makarasara W., Mushiroda T., et al. A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E. Hum Genet 2010, 127(3):303-314.
52. Pandit R.A., Svasti S., Sripichai O., et al. Association of SNP in exon 1 of HBS1L with hemoglobin F level in beta0-thalassemia/hemoglobin E. Int J Hematol 2008, 88(4):357-361.
53. Kihm A.J., Kong Y., Hong W., et al. An abundant erythroid protein that stabilizes free alpha-haemoglobin. Nature 2002, 417(6890):758-763.
54. Viprakasit V., Tanphaichitr V.S., Chinchang W., et al. Evaluation of alpha hemoglobin stabilizing protein (AHSP) as a genetic modifier in patients with beta thalassemia. Blood 2004, 103(9):3296-3299.
55. Bosma P.J., Chowdhury J.R., Bakker C., et al. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N Engl J Med 1995, 333(18):1171-1175.
56. Sampietro M., Iolascon A. Molecular pathology of Crigler-Najjar type I and II and Gilbert's syndromes. Haematologica 1999, 84(2):150-157.
57. del Giudice E.M., Perrotta S., Nobili B., et al. Coinheritance of Gilbert syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis. Blood 1999, 94(7):2259-2262.
58. Premawardhena A., Fisher C.A., Fathiu F., et al. Genetic determinants of jaundice and gallstones in haemoglobin E beta thalassaemia. Lancet 2001, 357(9272):1945-1946.
59. Rees D.C., Duley J., Simmonds H.A., et al. Interaction of hemoglobin E and pyrimidine 5' nucleotidase deficiency. Blood 1996, 88(7):2761-2767.
60. Escuredo E., Marinaki A.M., Duley J.A., et al. The genetic basis of the interaction between pyrimidine 5' nucleotidase I deficiency and hemoglobin E. Nucleosides Nucleotides Nucleic Acids 2004, 23(8-9):1261-1263.
61. Olivieri N.F., De Silva S., Premawardena A., et al. Iron overload and iron-chelating therapy in hemoglobin E-beta thalassemia. J Pediatr Hematol Oncol 2000, 22(6):593-597.
62. Pointon J.J., Viprakasit V., Miles K.L., et al. Hemochromatosis gene (HFE) mutations in South East Asia: a potential for iron overload. Blood Cells Mol Dis 2003, 30(3):302-306.
63. Merryweather-Clarke A.T., Pointon J.J., Shearman J.D., et al. Global prevalence of putative haemochromatosis mutations. J Med Genet 1997, 34(4):275-278.
64. Merryweather-Clarke A.T., Pointon J.J., Jouanolle A.M., et al. Geography of HFE C282Y and H63D mutations. Genet Test 2000, 4(2):183-198.
65. Lok C.Y., Merryweather-Clarke A.T., Viprakasit V., et al. Iron overload in the Asian community. Blood 2009, 114(1):20-25.
66. O'Donnell A., Premawardhena A., Arambepola M., et al. Age-related changes in adaptation to severe anemia in childhood in developing countries. Proc Natl Acad Sci U S A 2007, 104(22):9440-9444.
67. O'Donnell A., Premawardhena A., Arambepola M., et al. Interaction of malaria with a common form of severe thalassemia in an Asian population. Proc Natl Acad Sci U S A 2009, 106(44):18716-18721.
68. Huebers H.A., Beguin Y., Pootrakul P., et al. Intact transferrin receptors in human plasma and their relation to erythropoiesis. Blood 1990, 75(1):102-107.
69. Paritpokee N., Wiwanitkit V., Bhokaisawan N., et al. Serum erythropoietin levels in pediatric patients with beta-thalassemia/hemoglobin E. Clin Lab 2002, 48(11-12):631-634.
70. Sukpanichnant S., Opartkiattikul N., Fucharoen S., et al. Difference in pattern of erythropoietin response between beta-thalassemia/hemoglobin E children and adults. Southeast Asian J Trop Med Public Health 1997, 28(Suppl 3):134-137.
71. Sherwood J.B., Goldwasser E., Chilcote R., et al. Sickle cell anemia patients have low erythropoietin levels for their degree of anemia. Blood 1986, 67(1):46-49.
72. Ershler W.B., Sheng S., McKelvey J., et al. Serum erythropoietin and aging: a longitudinal analysis. J Am Geriatr Soc 2005, 53(8):1360-1365.
73. Powers J.S., Krantz S.B., Collins J.C., et al. Erythropoietin response to anemia as a function of age. J Am Geriatr Soc 1991, 39(1):30-32.
74. Goodnough L.T., Price T.H., Parvin C.A. The endogenous erythropoietin response and the erythropoietic response to blood loss anemia: the effects of age and gender. J Lab Clin Med 1995, 126(1):57-64.
75. Mendis C., Gamage-Mendis A.C., De Zoysa A.P., et al. Characteristics of malaria transmission in Kataragama, Sri Lanka: a focus for immuno-epidemiological studies. Am J Trop Med Hyg 1990, 42(4):298-308.
76. Mendis K., Sina B.J., Marchesini P., et al. The neglected burden of Plasmodium vivax malaria. Am J Trop Med Hyg 2001, 64(1-2 Suppl):97-106.
77. Weatherall D.J., Kwiatkowski D. Hematologic disorders of children in developing countries. Pediatr Clin North Am 2002, 49(6):1149-1164.