α-thalassemia: Hb H disease and Hb Barts hydrops fetalis

Annals of the New York Academy of Sciences

Volumn 1054, Issue , 2005, Pages 25-32

  Chui, David H K ^a  

^a BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Hb Barts hydrops fetalis; Hb H disease; Prenatal diagnosis; Thalassemia

Indexed keywords

ALPHA GLOBIN; HEMOGLOBIN H;

ALPHA THALASSEMIA; BETA THALASSEMIA; CHINA; CONFERENCE PAPER; FATALITY; FETUS HYDROPS; GENE MUTATION; GLOBIN GENE; HEALTH EDUCATION; HUMAN; SOUTHEAST ASIA; THALASSEMIA MAJOR;

EID: 29744458125     PISSN: 00778923     EISSN: None     Source Type: Book Series    
DOI: 10.1196/annals.1345.004     Document Type: Conference Paper

References (43)

1. FORGET, E.G. 2001. Molecular genetics of the human globin genes. In Disorders of Hemoglobin; Genetics, Pathophysiology, and Clinical Management. M.H. Steinberg, E.G. Forget, D.R. Higgs & R.L. Nagel, Eds.: 117-130. Cambridge University Press. Cambridge, UK.
2. GOOSSENS, M., A.M. DOZY, S.H. EMBURY, et al. 1980. Triplicated α-globin loci in humans. Proc. Natl. Acad. Sci. USA 77: 518-521.
3. Gu, Y.C., H. LANDMAN & T.H. HUISMAN. 1987. Two different quadruplicated α globin gene arrangements. Br. J. Haematol. 66: 245-250.
4. LIEBHABER, S.A., F.E. CASH & S.K. BALLAS. 1986. Human α-globin gene expression. The dominant role of the α2-locus in mRNA and protein synthesis. J. Biol. Chem. 261: 15327-15333.
5. HIGGS, D.R. 2001. Molecular mechanisms of α thalassemia. In Disorders of Hemoglobin; Genetics, Pathophysiology, and Clinical Management. M.H. Steinberg, B.G. Forget, D.R. Higgs, R.L. Nagel, Eds.: 405-430. Cambridge University Press. Cambridge, UK.
6. CHUI, D.H.K. & J.S. WAYE. 1998. Hydrops fetalis caused by α-thalassemia: an emerging health care problem. Blood 91: 2213-2222.
7. CHUI, D.H.K., S. FUCHAROEN & V. CHAN. 2003. Hemoglobin H disease: not necessarily a benign disorder. Blood 101: 791-800.
8. LAU, Y.L., L.C. CHAN, Y.Y.A. CHAN, et al. 1997. Prevalence and genotypes of α- and β-thalassemia carriers in Hong Kong-implications for population screening. N. Engl. J. Med. 336: 1298-1301.
9. LEMMENS-ZYGULSKA, M., A. EIGEL, B. HELBIG, et al. 1996. Prevalence of α-thalassemias in northern Thailand. Hum. Genet. 98: 345-347.
10. ARNON, S., H. TAMARY, O. DGANY, et al. 2004. Hydrops fetalis associated with homozygosity for hemoglobin Taybe (α 38/39 THR deletion) in newborn triplets. Am. J. Hematol. 76: 263-266.
11. HARDISON, R.C., D.H.K. CHUI, C. RIEMER, et al. Databases of human hemoglobin variants and other resources at the globin gene server. Hemoglobin 25: 183-193.
12. LOREY, F., P. CHAROENKWAN, H.E. WITKOWSKA, et al. 2001. Hb H hydrops foetalis syndrome: a case report and review of literature. Br. J. Haematol. 115: 72-78.
13. HIGGS, D.R. & D.K. BOWDEN. 2001. Clinical and laboratory features of the
14. 0 thalassemia associated with transfusion-dependent Hb H disease. Am. J. Hematol. 75: 157-163.
15. WAVE, J.S., L. WALKER, D.H.K. CHUI, et al. 2000. Homozygous Hb Sallanches [α104(G11)Cys→] in a Pakistani child with Hb H disease. Hemoglobin 24: 355-357.
16. CHEN, F.E., C. Ooi, S.Y. HA, et al. 2000. Genetic and clinical features of hemoglobin H disease in Chinese patients. N. Engl. J. Med. 343: 544-550.
17. VIPRAKASIT, V., S. GREEN, S. HEIGHT, et al. 2002. Hb H hydrops fetalis syndrome associated with the interaction of two common determinants of α thalassaemia (-MED/(α)TSaudi(α)). Br. J. Haematol. 117: 759-762.
18. LEUNG, K.Y., C.P. LEE, M.H. TANG, et al. 2004. Cost-effectiveness of prenatal screening for thalassaemia in Hong Kong. Prenat. Diagn. 24: 899-907.
19. Xu, X.M., Y.Q. ZHOU, G.X. Luo, et al. 2004. The prevalence and spectrum of α and β thalassaemia in Guangdong Province: implications for the future health burden and population screening. J. Clin. Pathol. 57: 517-522.
20. LIAO, C., Q.H. Mo, J. Li, et al. 2005. Carrier screening for α- and β-thalassemia in pregnancy: the results of an 11-year prospective program in Guangzhou Maternal and Neo natal hospital. Prenat. Diagn. 25:163-171.
21. TONGSONG, T., C. WANAPIRAK, P. SIRIVATANAPA, et al. 2001. Prenatal eradication of Hb Bart's hydrops fetalis. J. Reprod. Med. 46: 18-22.
22. Chui, D.H.K. & G.J. Dover. 2001. Sickle cell disease: no longer a single gene disorder. Curr. Opin. Pediatr. 13: 22-27.
23. WEATHERALL, D.J. 2001. Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias. Nat. Rev. Genet. 2: 245-255.
24. CHAN, L.C., S.K. MA, A.Y. CHAN, et al. 2001. Should we screen for globin gene mutations in blood samples with mean corpuscular volume (MCV) greater than 80 fL in areas with a high prevalence of thalassaemia? J. Clin. Pathol. 54: 317-320.
25. McBRIDE, K.L., K. SNOW, K.S. KUBIK, et al. 2001. Hb Dartmouth [α66(E15)Leu→Pro (α) (CTGαCCG)]: a novel alpha2-globin gene mutation associated with severe neonatal anemia when inherited in trans with Southeast Asian α-thalassemia-1. Hemoglobin. 25: 375-382.
26. LAM, Y.H., A. GHOSH, M.H. TANG & V. CHAN. 1997. The risk of α-thalassaemia in off-spring of β-thalassaemia carriers in Hong Kong. Prenat. Diagn. 17: 733-736.
27. LAW, H.Y., M.K. CHEE, O.P. TAN & I.S. No. 2003. The simultaneous presence of α- and β-thalassaemia alleles: a pitfall of thalassaemia screening. Community Genet. 6: 14-21.
28. CHAN, L.C., J.C.C. So & D.H.K. CHUI. 1995. Comparison of haemoglobin H inclusion bodies with embryonic ζ globin in screening for α thalassaemia. J. Clin. Pathol. 48: 861-864.
29. CHAN, A.Y.Y., C.K.C. So & L.C. CHAN. 1996. Comparison of the HbH inclusion test and a PCR test in routine screening for α thalassaemia in Hong Kong. J. Clin. Pathol. 49: 411-413.
30. TAN, A.S.C., T.C. QUAH, P.S. Low & S.S. CHONG. 2001. A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for α-thalassemia. Blood 98: 250-251.
31. OLD, J.M. 2003. Screening and genetic diagnosis of haemoglobin disorders. Blood Rev. 17: 43-53.
32. CLARK, B.E. & S.L. THEIN. 2004. Molecular diagnosis of haemoglobin disorders. CHn Lab Haematol. 26: 159-176.
33. LAM, Y.H., A. GHOSH, M.H.Y. TANG, et al. 1997. Second-trimester hydrops fetalis in pregnancies affected by homozygous α-thalassaemia-1. Prenat. Diagn. 17: 267-269.
34. TONGSONG, T., C. WANAPIRAK, S. SIRICHOTIYAKUL & P. CHANPRAPAPH. 2004. Sonographic markers of hemoglobin Bart disease at midpregnancy. J. Ultrasound Med. 23: 49-55.
35. LAU, E.T., Y.K. KWOK, H.-Y. Luo, et al. 2005. Simple non-invasive prenatal detection of Hb Bart's disease by analysis of fetal erythrocytes in maternal blood. Prenat. Diagn. 25: 123-128.
36. CHIU, R.W., T.K. LAU, T.N. LEUNG, et al. 2000. Prenatal exclusion of β thalassaemia major by examination of maternal plasma. Lancet 360: 998-1000.
37. DING, C., R.W. CHIU, T.K. LAU, et al. 2004. MS analysis of single-nucleotide differences in circulating nucleic acids: application to noninvasive prenatal diagnosis. Proc. Natl. Acad. Sci. USA 101: 10762-10767.
38. SINGER, S.T., L. STYLES, J. BOJANOWSKI, et al. 2000. Changing outcome of homozygous α-thalassemia: cautious optimism. J. Pediatr. Hematol. Oncol. 22: 539-542.
39. ZHOU, X., S.Y. HA, G.C. CHAN, et al. 2001. Successful mismatched sibling cord blood transplant in Hb Bart's disease. Bone Marrow Transplant. 28: 105-107.
40. THORNLEY, I., L. LEHMANN, W.S. FERGUSON, et al. 2003. Homozygous α-thalassemia treated with intrauterine transfusions and postnatal hematopoietic stem cell transplantation. Bone Marrow Transplant. 32: 341-342.
41. JOSHI, D.D., H.J. NICKERSON & M.J. McMANUS. 2004. Hydrops fetalis caused by homozygous α-thalassemia and Rh antigen alloimmunization: report of a survivor and literature review. Clin. Med. Res. 2: 228-232.
42. CHUI, D.H.K. 2005. α-Thalassemia and population health in Southeast Asia. Ann. Human Biol. 32: 123-130.
43. SAVLA, U. & J. HAWLEY. 2004. Want the world to know? Publish here. J. Clin. Invest. 114: 602.