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. 2011;2(4):403-8.
Epub 2011 Nov 28.

Molecular epidemiology of β-thalassemia in Pakistan: far reaching implications

Saqib H Ansari  1 , Tahir S Shamsi, Mushtaq Ashraf, Muneera Bohray, Tasneem Farzana, Mohammed Tahir Khan, Kousar Perveen, Sajida Erum, Iqra Ansari, Muhammad Nadeem, Masood Ahmed, Faizan Raza
Affiliations

Molecular epidemiology of β-thalassemia in Pakistan: far reaching implications

Saqib H Ansari et al. Int J Mol Epidemiol Genet. 2011.

Abstract

β-thalassaemia, an autosomal recessive hemoglobinopathy, is one of the commonest genetically transmitted disorders throughout the world. Collective measures including carrier identification, genetic counseling and prenatal diagnosis are required for preventing β-thalassemia. To achieve this objective, Identification of the spectrum of genetic mutations, especially for various ethnic backgrounds in Pakistan is necessary. Therefore, we designed a cross sectional prospective study to identify the frequency of various gene mutations in different ethnic groups of Pakistan. Over a 5-year period, DNA from 648 blood samples [including specimens of chorionic villus sampling (CVS)] were analyzed for the twelve most common β-thalassemia mutations found in the Pakistani population by a Multiplex amplification refractory mutation system (ARMS). The most common mutation identified was Intervening Sequence 1-5 (IVS 1-5 (G-C)); accounting for 40.89% mutated alleles, and was represented in all ethnic groups. 15.7 % of the β-thalassemia alleles were found to have Frameshift 8-9 (Fr 8-9) as the second most common mutation Other common genetic defects responsible for β-thalassemia: IVS 1-1 (G-T) was found in 8.17%, Codon-30 (Cd-30 (G-C)) 8.02%, Codon-5(Cd-5 (-CT)) contributed 2.16% and Deletion 619 base pair (Del 619bp) affected 11.11% were found in Pakistan. This large study adds to the pre-existing data in Pakistan. Knowledge of the predominant mutation in a given ethnic group will not only help in developing a short panel of (population-specific) primers of mutations thereby providing a cost-effective method for prenatal diagnosis and also help the clinicians to counsel regarding blood transfusion regimen/ pregnancy termination.

Keywords: Pakistan; genetic mutations; molecular epidemiology; β-thalassemia.

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Figures

Figure 1
Figure 1
Distribution of different genetic mutations in different provinces.
Figure 2
Figure 2
Individual with β-thalassaemia trait based on haematological indices.
See this image and copyright information in PMC

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