Original Paper

Alpha-Thalassaemia in Association with Beta-Thalassaemia Patients in Malaysia: A Study on the Co-Inheritance of Both Disorders
Y.C. Wee^a, K.L. Tan^a, K. Kuldip^a, K.S. Tai^a, E. George^e, P.C. Tan^b, P. Chia^d, R. Subramaniam^d, S.F. Yap^c, J.A.M.A. Tan^a

Departments of
^aMolecular Medicine,
^bObstetrics and Gynaecology and
^cPathology, Faculty of Medicine, University of Malaya, and
^dFetal Medicine and Gynaecology Centre, Kuala Lumpur, and
^eDepartment of Pathology, Faculty of Medicine and Health Sciences, University Putra Malaysia, Selangor, Malaysia

Address of Corresponding Author

Community Genet 2008;11:129-134 (DOI: 10.1159/000113874)

  Key Words

• -Thalassaemia
• -Thalassaemia
• Southeast Asian deletion
• Hb Bart's hydrops foetalis
• Amplification refractory mutation system
• Gap-PCR
• PCR-RFLP
• Duplex PCR

  Abstract

Background/Aims: Individuals with double heterozygosity for - and -thalassaemia and heterozygous -thalassaemia show a similar haematological picture. Co-inheritance of - and -thalassaemia in both partners may result in pregnancies with either Hb Bart's hydrops foetalis or -thalassaemia major, or pregnancies with both disorders. Methods: The co-inheritance of -thalassaemia in 322 -thalassaemia carriers in Malaysia was studied. Results: The frequency of -thalassaemia in the -thalassaemia carriers was 12.7% (41/322), with a carrier frequency of 7.8% for the SEA deletion, 3.7% for the -^3.7 deletion, 0.9% for Hb Constant Spring and 0.3% for the -^4.2 deletion. Conclusion: Double heterozygosity for - and -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 -thalassaemia (--^SEA, -^3.7 and -^4.2 deletions, Hb Constant Spring) in Malaysian -thalassaemia carriers.

Copyright © 2008 S. Karger AG, Basel

  Author Contacts

Yong Chui Wee
Department of Molecular Medicine, Faculty of Medicine
University of Malaya, Lembah Pantai
50603 Kuala Lumpur (Malaysia)
Tel. +60 3 7967 4903, Fax +60 3 7967 6600, E-Mail weeyongchui@yahoo.com

  Article Information

Published online: March 26, 2008
Number of Print Pages : 6
Number of Figures : 0, Number of Tables : 3, Number of References : 36