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Int. J. Mol. Sci. 2013, 14(9), 18599-18614; doi:10.3390/ijms140918599

Distribution of Alpha Thalassaemia Gene Variants in Diverse Ethnic Populations in Malaysia: Data from the Institute for Medical Research

1,* , 2
1 Haematology Unit, Institute for Medical Research, Jalan Pahang, 50588 Kuala Lumpur, Malaysia 2 Genetic Research Group, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Selangor 43400, Malaysia
* Author to whom correspondence should be addressed.
Received: 27 June 2013 / Revised: 27 July 2013 / Accepted: 28 July 2013 / Published: 10 September 2013
(This article belongs to the Section Molecular Diagnostics)
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Alpha thalassaemia is highly prevalent in the plural society of Malaysia and is a public health problem. Haematological and molecular data from 5016 unrelated patients referred from various hospitals to the Institute for Medical Research for α thalassaemia screening from 2007 to 2010 were retrieved. The aims of this retrospective analysis were to describe the distribution of various alpha thalassaemia alleles in different ethnic groups, along with their genotypic interactions, and to illustrate the haematological changes associated with each phenotype. Amongst the patients, 51.2% (n = 2567) were diagnosed with α thalassaemia. Of the 13 α thalassaemia determinants screened, eight different deletions and mutations were demonstrated: three double gene deletions, ––SEA, ––THAI, ––FIL; two single-gene deletions, α3.7 and –α4.2; and three non-deletion mutations, Cd59G > A (haemoglobin [Hb] Adana), Cd125T > C (Hb Quong Sze) and Cd142 (Hb Constant Spring). A high incidence of α3.7 deletion was observed in Malays, Indians, Sabahans, Sarawakians and Orang Asli people. However, the ––SEA deletion was the most common cause of alpha thalassaemia in Chinese, followed by the α3.7 deletion. As many as 27 genotypic interactions showed 1023 α thalassaemia silent carriers, 196 homozygous α+ thalassaemia traits, 973 heterozygous α0 thalassaemia carriers and 375 patients with Hb H disease. Statistical analysis showed a significant difference in the distribution of α thalassaemia determinants amongst the various ethnic groups. Hence, the heterogeneous distribution of common determinants indicated that the introduction of an ethnicity-targeted hierarchical α thalassaemia screening approach in this multi-ethnic Malaysian population would be effective.
Keywords: alpha thalassaemia; Hb Adana; Malaysia; Sabah; Sarawak; Orang Asli alpha thalassaemia; Hb Adana; Malaysia; Sabah; Sarawak; Orang Asli
This is an open access article distributed under the Creative Commons Attribution License (CC BY) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Ahmad, R.; Saleem, M.; Aloysious, N.S.; Yelumalai, P.; Mohamed, N.; Hassan, S. Distribution of Alpha Thalassaemia Gene Variants in Diverse Ethnic Populations in Malaysia: Data from the Institute for Medical Research. Int. J. Mol. Sci. 2013, 14, 18599-18614.

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