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Indian J Hum Genet. 2012 May;18(2):193-7. doi: 10.4103/0971-6866.100762.

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

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



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. 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). Each sample was analyzed for the mutation as well as the normal gene, appropriate with negative and positive controls, and reagent blanks.


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.


Based on the outcome of this study a cost effective proposal is formulated for detection of β-thalassemia mutations.


Gene frequency; genetic epidemiology; prenatal diagnosis; thalassaemia prevention

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