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

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

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

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

Indian J Hum Genet ; 2012 May; 18(2): 193-197

Artículo en Inglés | IMSEAR | ID: sea-143270

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.

Asunto(s)

Etnicidad/genética Frecuencia de los Genes/genética Humanos Mutación/genética Pakistán Diagnóstico Prenatal/métodos Talasemia beta/diagnóstico Talasemia beta/epidemiología Talasemia beta/genética Talasemia beta/prevención & control

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

Background:

Aim:

Methods:

Results:

Conclusions:

Asunto(s)