Indian Journal of Human Genetics
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ORIGINAL ARTICLE
Year : 2012  |  Volume : 18  |  Issue : 2  |  Page : 193-197

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


Department of Pediatric Hematology & Molecular Medicine, National Institute of Blood Diseases, Karachi, Pakistan

Correspondence Address:
Saqib H Ansari
Paediatric Haematologist, National Institute of Blood Diseases, ST 2/A, Block 17, Gulshan-e-Iqbal, KDA Scheme 24, Karachi
Pakistan
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-6866.100762

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Background: 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. Aim: To achieve this objective, Identification of the spectrum of genetic mutations, especially for various ethnic backgrounds in Pakistan. Therefore, we designed a cross sectional prospective study to identify the frequency of various gene mutations in different ethnic groups of Pakistan. Materials and Methods: 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). Each sample was analyzed for the mutation as well as the normal gene, appropriate with negative and positive controls, and reagent blanks. Results: Out of 648 samples mutations were identified in 640 (98.75%) samples by multiplex ARMS. 8 common β-thalassemia mutations were identified in 8 different ethnic groups accounting for 93.9% of the β-thalasemia alleles. Conclusions: Based on the outcome of this study a cost effective proposal is formulated for detection of β-thalassemia mutations.


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