Molecular study and genotype/phenotype correlation of β thalassemia in Malaysia

International Journal of Laboratory Hematology

Volumn 34, Issue 4, 2012, Pages 377-382

  Sivalingam, M ^a   Looi, M L ^a   Zakaria, S Z S ^b   Hamidah, N H ^b   Alias, H ^b   Latiff, Z A ^b   Ibrahim, H ^c   Jamal, R ^a,b  

^a UNIVERSITI KEBANGSAAN MALAYSIA   (Malaysia)

^b DEPARTMENT OF PHARMACOLOGY   (Malaysia)

^c HOSPITAL KUALA LUMPUR   (Malaysia)

Author keywords

Alpha thalassemia; Beta mutations; Beta thalassemia; Molecular testing; Xmn 1 polymorphism

Indexed keywords

ALPHA GLOBIN; BETA GLOBIN; HEMOGLOBIN E;

AMPLIFICATION REFRACTORY MUTATION SYSTEM; ARTICLE; BETA THALASSEMIA; BLOOD TRANSFUSION; COHORT ANALYSIS; DIAGNOSTIC VALUE; DISEASE SEVERITY; DNA SEQUENCE; ETHNIC GROUP; GENE FREQUENCY; GENE MUTATION; GENETIC PROCEDURES; GENOTYPE PHENOTYPE CORRELATION; GLOBIN GENE; HETEROZYGOSITY; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALAYSIA; MOLECULAR GENETICS; MULTIPLEX POLYMERASE CHAIN REACTION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SENSITIVITY AND SPECIFICITY; THALASSEMIA INTERMEDIA; THALASSEMIA MAJOR;

ASIAN CONTINENTAL ANCESTRY GROUP; BETA-GLOBINS; BETA-THALASSEMIA; GENE DELETION; GENETIC ASSOCIATION STUDIES; HUMANS; INDIA; MALAYSIA;

EID: 84862842180     PISSN: 17515521     EISSN: 1751553X     Source Type: Journal    
DOI: 10.1111/j.1751-553X.2012.01405.x     Document Type: Article

References (34)

1. Abdullah W.A., Jamaluddin N.B., Kham S.K. & Tan J.A. (1996) The spectrum of beta-thalassemia mutations in Malays in Singapore and Kelantan. Southeast Asian Journal of Tropical Medicine and Public Health 27, 164-168.
2. Colah R., Gorakshakar A., Nadkarni A., Phanasgaonkar S., Surve R., Sawant P., Mohanty D. & Ghosh K. (2009) Regional heterogeneity of beta-thalassemia mutations in the multi ethnic Indian population. Blood Cells, Molecules, and Diseases 42, 241-246.
3. Cunningham M.J. (2010) Update on thalassemia: clinical care and complications. Hematology/oncology Clinics of North America 24, 215-227.
4. Deborah Rund A.E.R. (2005) β-Thalassemia. New England Journal of Medicine 353, 1135-1146.
5. Galanello R. & Origa R. (2010) Beta-thalassemia. Orphanet Journal of Rare Disease 5, 11.
6. George E., Faridah K. & Sivagengei K. (1988) Haemoglobin E--beta thalassaemia reexamined. Singapore Medical Journal 29, 45-47.
7. Ghanem N., Girodon E., Vidaud M., Martin J., Fanen P., Plassa F. & Goossens M. (1992) A comprehensive scanning method for rapid detection of beta-globin gene mutations and polymorphisms. Human Mutation 1, 229-239.
8. Gilman J.G. & Huisman T.H. (1985) DNA sequence variation associated with elevated fetal G gamma globin production. Blood 66, 783-787.
9. Giordano P.C., Bakker-Verwij M. & Harteveld C.L. (2009) Frequency of alpha-globin gene triplications and their interaction with beta-thalassemia mutations. Hemoglobin 33, 124-131.
10. Giordano P.C., Van Delft P., Batelaan D., Harteveld C.L. & Bernini L.F. (1999) Haemoglobinopathy analyses in the Netherlands: a report of an in vitro globin chain biosynthesis survey using a rapid, modified method. Clinical & Laboratory Haematology 21, 247-256.
11. Hamidah A., Rahmah R., Azmi T., Aziz J. & Jamal R. (2001) Short stature and truncal shortening in transfusion dependent thalassemia patients: results from a thalassemia center in Malaysia. Southeast Asian Journal of Tropical Medicine and Public Health 32, 625-630.
12. Harteveld C.L., Refaldi C., Cassinerio E., Cappellini M.D. & Giordano P.C. (2008) Segmental duplications involving the alpha-globin gene cluster are causing beta-thalassemia intermedia phenotypes in beta-thalassemia heterozygous patients. Blood Cells, Molecules, and Diseases 40, 312-316.
13. Ho P.J., Hall G.W., Luo L.Y., Weatherall D.J. & Thein S.L. (1998) Beta-thalassaemia intermedia: is it possible consistently to predict phenotype from genotype? British Journal Haematology 100, 70-78.
14. Ismail A., Campbell M.J., Ibrahim H.M. & Jones G.L. (2006) Health related quality of life in Malaysian children with thalassaemia. Health and Quality of Life Outcomes 4, 39.
15. Ko T.M. & Xu X. (1998) Molecular study and prenatal diagnosis of alpha- and beta-thalassemias in Chinese. Journal of the Formosan Medical Association 97, 5-15.
16. Nuntakarn L., Fucharoen S., Fucharoen G., Sanchaisuriya K., Jetsrisuparb A. & Wiangnon S. (2009) Molecular, hematological and clinical aspects of thalassemia major and thalassemia intermedia associated with Hb E-beta-thalassemia in Northeast Thailand. Blood Cells, Molecules, and Diseases 42, 32-35.
17. Old J.M. (2003) Screening and genetic diagnosis of haemoglobin disorders. Blood Reviews 17, 43-53.
18. Ratip S., Petrou M., Old J.M., Wonke B., Porter J.B. & Modell B. (1997) Relationship between the severity of beta-thalassaemia syndromes and the number of alleviating mutations. European Journal of Haematology 58, 14-21.
19. Riewpaiboon A., Nuchprayoon I., Torcharus K., Indaratna K., Thavorncharoensap M. & Ubol B.O. (2010) Economic burden of beta-thalassemia/Hb E and beta-thalassemia major in Thai children. BMC Research Notes 3, 29.
20. Rund D. & Fucharoen S. (2008) Genetic modifiers in hemoglobinopathies. Current Molecular Medicine 8, 600-608.
21. Talmaci R., Traeger-Synodinos J., Kanavakis E., Coriu D., Colita D. & Gavrila L. (2004) Scanning of beta-globin gene for identification of beta-thalassemia mutation in Romanian population. Journal of Cellular and Molecular Medicine 8, 232-240.
22. Tan JAMA Yap S.F, Tan K.L & Thong M.K (1999) The use of the Amplification Refractory Mutation System (ARMS) as an effective and economical tool for prenatal diagnosis of β-thalassaemia in Malaysian subjects. Journal of International Medical Research 2, 65-68.
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. Tan J.A., George E., Tan K.L., Chow T., Tan P.C., Hassan J., Chia P., Subramanium R., Chandran R. & Yap S.F. (2004) Molecular defects in the beta-globin gene identified in different ethnic groups/populations during prenatal diagnosis for beta-thalassemia: a Malaysian experience. Clinical and Experimental Medicine 4, 142-147.
25. Tan J.A., Chin P.S., Wong Y.C., Tan K.L., Chan L.L. & George E. (2006) Characterisation and confirmation of rare beta-thalassaemia mutations in the Malay, Chinese and Indian ethnic groups in Malaysia. Pathology 38, 437-441.
26. Thein S.L. (2005) Genetic modifiers of beta-thalassemia. Haematologica 90, 649-660.
27. Thein S.L., Wood W.G., Wickramasinghe S.N. & Galvin M.C. (1993) Beta-thalassemia unlinked to the beta-globin gene in an English family. Blood 82, 961-967.
28. Thong M.K., Tan J.A., Tan K.L. & Yap S.F. (2005) Characterisation of beta-globin gene mutations in Malaysian children: a strategy for the control of beta-thalassaemia in a developing country. Journal of Tropical Pediatrics 51, 328-333.
29. Weatherall D.J. & Clegg J.B. (2001) The Thalassaemia Syndromes. The laboratory Diagnosis of the Thalassaemia. 4th edn, Oxford: Wiley-Blackwell.
30. Wee Y.C., Tan K.L., Kuldip K., Tai K.S., George E., Tan P.C., Chia P., Subramaniam R., Yap S.F. & Tan J.A. (2008) Alpha-thalassaemia in association with beta-thalassaemia patients in Malaysia: a study on the co-inheritance of both disorders. Community Genetcis 11, 129-134.
31. Win N., Harano T., Harano K., Myint T.T., Mra R., Okada S., Shimono K. & Myint A.A. (2002) A wider molecular spectrum of beta-thalassaemia in Myanmar. British Journal Haematology 117, 988-992.
32. Winichagoon P., Thonglairoam V., Fucharoen S., Wilairat P., Fukumaki Y. & Wasi P. (1993) Severity differences in beta-thalassaemia/haemoglobin E syndromes: implication of genetic factors. British Journal Haematology 83, 633-639.
33. Wong Y.C., George E., Tan K.L., Yap S.F., Chan L.L. & Tan J.A. (2006) Molecular characterisation and frequency of Ggamma Xmn I polymorphism in Chinese and Malay beta-thalassaemia patients in Malaysia. Malaysian Journal of Pathology 28, 17-21.
34. Yavarian M., Karimi M., Bakker E., Harteveld C.L. & Giordano P.C. (2004) Response to hydroxyurea treatment in Iranian transfusion-dependent beta-thalassemia patients. Haematologica 89, 1172-1178.