Alpha-thalassaemia in association with beta-thalassaemia patients in Malaysia: a study on the co-inheritance of both disorders

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. (2008) Alpha-thalassaemia in association with beta-thalassaemia patients in Malaysia: a study on the co-inheritance of both disorders. Community Genetics, 11 (3). pp. 129-134. ISSN 1422-2795

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    Abstract

    Background/Aims: Individuals with double heterozygosity for alpha- and beta-thalassaemia and heterozygous beta-thalassaemia show a similar haematological picture. Co-inheritance of (alpha- and beta-thalassaemia in both partners may result in pregnancies with either Hb Bart's hydrops foetalis or beta-thalassaemia major, or pregnancies with both disorders. Methods: The co-inheritance of a-thalassaemia in 322 P-thalassaemia carriers in Malaysia was studied. Results: The frequency of (alpha-thalassaemia in the beta-thalassaemia carriers was 12.7 (41/322), with a carrier frequency of 7.8 for the SEA deletion, 3.7 for the -alpha(3.7) deletion, 0.9 for Hb Constant Spring and 0.3 for the -alpha(4.2) deletion. Conclusion: Double heterozygosity for (alpha- and beta-thalassaemia was confirmed in 5 out of the 41 couples and the risk of the fatal condition Hb Bart's hydrops foetalis was confirmed in two of these couples. Detection of the Southeast Asian (SEA) deletion in the Malaysian Malays in this study confirms that Hb Bart's hydrops foetalis can occur in this ethnic group. Results of this study have provided new information on the frequency and different types of alpha-thalassaemia (--(SEA), -alpha(3.7) and -alpha(4-1) deletions, Hb Constant Spring) in Malaysian beta-thalassaemia carriers.Copyright (C) 2008 S. Karger AG, Basel.

    Item Type: Article
    Journal or Publication Title: Community Genetics
    Additional Information: 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. M. A.
    Uncontrolled Keywords: α-Thalassaemia, β-Thalassaemia, Southeast Asian deletion, Amplification refractory mutation system, Gap-PCR, PCR-RFLP, Duplex PCR
    Subjects: R Medicine
    Divisions: Faculty of Medicine
    Depositing User: Ms Haslinda Lahuddin
    Date Deposited: 04 Oct 2012 08:52
    Last Modified: 04 Oct 2012 08:52
    URI: http://eprints.um.edu.my/id/eprint/3715

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