ORIGINAL ARTICLE |
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Year : 2012 | Volume
: 18
| Issue : 2 | Page : 193-197 |
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Molecular epidemiology of β-thalassemia in Pakistan: Far reaching implications
Saqib H Ansari, Tahir S Shamsi, Mushtaq Ashraf, Tasneem Farzana, Muneera Bohray, Kousar Perveen, Sajida Erum, Iqra Ansari, Muhammad Nadeem Ahmed, Masood Ahmed, Faizan Raza
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
Source of Support: None, Conflict of Interest: None | 1 |
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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