Common origin of a rare β-globin initiation codon mutation (ATG → AGG) in Asians

Clinical and Laboratory Haematology

Volumn 27, Issue 6, 2005, Pages 409-415

  Viprakasit, Vip ^a   Chinchang, W ^a   Suwanthol, L ^a   Tanphaichitr, V S ^a  

^a MAHIDOL UNIVERSITY   (Thailand)

Author keywords

globin haplotype; An initiation codon mutation (ATG AGG); Hb E thalassaemia; XmnI polymorphism

Indexed keywords

ADENOSINE; BETA GLOBIN; CYTOSINE; GAMMA GLOBIN; GUANINE; HEMOGLOBIN; HEMOGLOBIN E; THYMINE;

ARTICLE; ASIAN; BETA THALASSEMIA; BLOOD ANALYSIS; BODY HEIGHT; BODY WEIGHT; CASE REPORT; CODON; DNA POLYMORPHISM; FOLLOW UP; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; HAPLOTYPE; HEMOGLOBIN ANALYSIS; HUMAN; HUMAN CELL; IRON DEFICIENCY ANEMIA; MALE; MOLECULAR GENETICS; PATIENT; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEGRADATION; SCHOOL CHILD; SIBLING; SPLENOMEGALY;

ANEMIA, HYPOCHROMIC; ASIAN CONTINENTAL ANCESTRY GROUP; BETA-THALASSEMIA; CHILD; CODON, INITIATOR; FAMILY HEALTH; GLOBINS; HAPLOTYPES; HEMOGLOBIN E; HUMANS; MALE; MULTIGENE FAMILY; PEDIGREE; POINT MUTATION; THAILAND;

EID: 28944444273     PISSN: 01419854     EISSN: 13652257     Source Type: Journal    
DOI: 10.1111/j.1365-2257.2005.00734.x     Document Type: Article

References (33)

1. Beris P., Darbellay R., Speiser D., Kirchner V. & Miescher P.A. (1993) De novo initiation codon mutation (ATG → ACG) of the beta-globin gene causing beta-thalassemia in a Swiss family. Am J Hematol 42, 248-253.
2. Fucharoen S. & Winichagoon P. (1997) Hemoglobinopathies in Southeast Asia: molecular biology and clinical medicine. Hemoglobin 21, 299-319.
3. Fucharoen S. & Winichagoon P. (2000) Clinical and hematologic aspects of hemoglobin E beta-thalassemia. Curr Opin Hematol 7, 106-112.
4. Fucharoen S., Fucharoen G., Sriroongrueng W., Laosombat V., Jetsrisuparb A., Prasatkaew S., Tanphaichitr V.S., Suvatte V., Tuchinda S. & Fukumaki Y. (1989) Molecular basis of beta-thalassemia in Thailand: analysis of beta-thalassemia mutations using the polymerase chain reaction. Hum Genet 84, 41-46.
5. Gupta A., Hattori Y. & Agarwal S. (2002) Initiation codon mutation in an Asian Indian family. Am J Hematol 71, 134-136.
6. Harano T., Harano K., Kushida Y. & Ueda S. (1990) Structural analysis of abnormal hemoglobin by the polymerase chain reaction (PCR) of genomic DNA. Rinsho Byori 38, 1067-1072.
7. Hattori Y., Yamashiro Y., Ohba Y., Miyaji T., Morishita M., Yamamoto K., Narai S. & Kimura A. (1991) A new beta-thalassemia mutation (initiation codon ATG-GTG) found in the Japanese population. Hemoglobin 15, 317-325.
8. Ho P.J., Wickramasinghe S.N., Rees D.C., Lee M.J., Eden A. & Thein S.L. (1997) Erythroblastic inclusions in dominantly inherited beta thalassemias. Blood 89, 322-328.
9. Huisman T.H. & Carver M.F. (1998) The beta- and delta-thalassemia repository (Ninth Edition: Part I). Hemoglobin 22, 169-195.
10. Jankovic L., Efremov G.D., Josifovska O., Juricic D., Stoming T.A., Kutlar A. & Huisman T.H. (1990) An initiation codon mutation as a cause of a beta-thalassemia. Hemoglobin 14, 169-176.
11. Khan S.N., Riazuddin S. & Galanello R. (2000) Identification of three rare beta-thalassemia mutations in the Pakistani population. Hemoglobin 24, 15-22.
12. Koo M.S., Kim S.I., Cho H.I., Hattori Y., Yamashiro Y., Hoshitani M., Ohba Y., Miyaji T. & Yamamoto K. (1992) A beta-thalassemia mutation found in Korea. Hemoglobin 16, 313-320.
13. Kozak M. (1980) Evaluation of the 'scanning model' for initiation of protein synthesis in eucaryotes. Cell 22, 7-8.
14. Lam V.M., Xie S.S., Tam J.W., Woo Y.K., Gu Y.L. & Li A.M. (1990) A new single nucleotide change at the initiation codon (ATG-AGG) identified in amplified genomic DNA of a Chinese beta-thalassemic patient. Blood 75, 1207-1208.
15. Landin B., Rudolphi O. & Ek B. (1995) Initiation codon mutation (ATG → ATA) of the beta-globin gene causing beta-thalassemia in a Swedish family. Am J Hematol 48, 158-162.
16. Nozari G., Rahbar S., Golshaiyzan A. & Rahmanzadeh S. (1995) Molecular analyses of beta-thalassemia in Iran. Hemoglobin 19, 425-431.
17. Ohba Y., Hattori Y., Harano T., Harano K., Fukumaki Y. & Ideguchi H. (1997) beta-thalassemia mutations in Japanese and Koreans. Hemoglobin 21, 191-200.
18. Orkin S.H., Kazazian H.H., Jr. Antonarakis S.E., Goff S.C., Boehm C.D., Sexton J.P., Waber P.G. & Giardina P.J. (1982) Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. Nature 296, 627-631.
19. Pirastu M., Saglio G., Chang J.C., Cao A. & Kan Y.W. (1984) Initiation codon mutation as a cause of alpha thalassemia. J Biol Chem 259, 12315-12317.
20. Rahbar S. & Nozari G. (1993) A novel initiation codon mutation (ATG → ATT) in a beta-thalassemia patient. Hemoglobin 17, 557-562.
21. Saba L., Meloni A., Sardu R., Travi M., Primignani P., Rosatelli M.C. & Cao A. (1992) A novel beta-thalassemia mutation (G → A) at the initiation codon of the beta-globin gene. Hum Mutat 1, 420-422.
22. Sutcharitchan P., Saiki R., Fucharoen S., Winichagoon P., Erlich H. & Embury S.H. (1995) Reverse dot-blot detection of Thai beta-thalassaemia mutations. Br J Haematol 90, 809-816.
23. Tan A.S., Quah T.C., Low P.S. & Chong S.S. (2001) A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for alpha-thalassemia. Blood 98, 250-251.
24. Thein S.L. & Craig J.E. (1998) Genetics of Hb F/F cell variance in adults and heterocellular hereditary persistence of fetal hemoglobin. Hemoglobin 22, 401-414.
25. Thein S.L., Winichagoon P., Hesketh C., Best S., Fucharoen S., Wasi P. & Weatherall D.J. (1990) The molecular basis of beta-thalassemia in Thailand: application to prenatal diagnosis. Am J Hum Genet 47, 369-375.
26. Varawalla N.Y., Fitches A.C. & Old J.M. (1992) Analysis of beta-globin gene haplotypes in Asian Indians: origin and spread of beta-thalassaemia on the Indian subcontinent. Hum Genet 90, 443-449.
27. Viprakasit V., Tanphaichitr V.S., Pung-Amritt P., Petrarat S., Suwantol L., Fisher C. & Higgs D.R. (2002) Clinical phenotypes and molecular characterization of Hb H-Pakse disease. Haematologica 87, 117-125.
28. Viprakasit V., Tanphaichitr V.S., Chinchang W., Sangkla P., Weiss M.J. & Higgs D.R. (2004) Evaluation of alpha hemoglobin stabilizing protein (AHSP) as a genetic modifier in patients with beta thalassemia. Blood 103, 3296-3299.
29. Waye J.S., Eng B., Patterson M., Barr R.D. & Chui D.H. (1997) De novo mutation of the beta-globin gene initiation codon (ATG → AAG) in a Northern European boy. Am J Hematol 56, 179-182.
30. Weatherall D.J. (2001) Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias. Nat Rev Genet 2, 245-255.
31. Weatherall D.J. & Clegg J.B. eds (2001) The Thalassaemia Syndromes, 4th edn. Blackwell Science, Oxford.
32. Wildmann C., Larondelle Y., Vaerman J.L., Eeckels R., Martiat P. & Philippe M. (1993) An initiation codon mutation as a cause of beta-thalassemia in a Belgian family. Hemoglobin 17, 19-30.
33. Winichagoon P., Higgs D.R., Goodbourn S.E., Clegg J.B., Weatherall D.J. & Wasi P. (1984) The molecular basis of alpha-thalassaemia in Thailand. EMBO J 3, 1813-1818.