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

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dc.contributor.authorAnsari, Saqib H
dc.contributor.authorShamsi, Tahir S
dc.contributor.authorAshraf, Mushtaq
dc.contributor.authorFarzana, Tasneem
dc.contributor.authorBohray, Muneera
dc.contributor.authorPerveen, Kousar
dc.contributor.authorErum, Sajida
dc.contributor.authorAnsari, Iqra
dc.contributor.authorAhmed, Muhammad Nadeem
dc.contributor.authorAhmed, Masood
dc.contributor.authorRaza, Faizan
dc.date.accessioned2012-11-21T10:20:24Z
dc.date.available2012-11-21T10:20:24Z
dc.date.issued2012-05
dc.description.abstractBackground: 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.en_US
dc.identifier.citationAnsari Saqib H, Shamsi Tahir S, Ashraf Mushtaq, Farzana Tasneem, Bohray Muneera, Perveen Kousar, Erum Sajida, Ansari Iqra, Ahmed Muhammad Nadeem, Ahmed Masood, Raza Faizan. Molecular epidemiology of β-thalassemia in Pakistan: Far reaching implications. Indian Journal of Human Genetics. 2012 May; 18(2): 193-197.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/143270
dc.language.isoenen_US
dc.source.urihttps://www.ijhg.com/article.asp?issn=0971-6866;year=2012;volume=18;issue=2;spage=193;epage=197;aulast=Ansarien_US
dc.subjectGene frequencyen_US
dc.subjectgenetic epidemiologyen_US
dc.subjectprenatal diagnosisen_US
dc.subjectthalassaemia preventionen_US
dc.subject.meshEthnic Groups --genetics
dc.subject.meshGene Frequency --genetics
dc.subject.meshHumans
dc.subject.meshMutation --genetics
dc.subject.meshPakistan
dc.subject.meshPrenatal Diagnosis --methods
dc.subject.meshbeta-Thalassemia --diagnosis
dc.subject.meshbeta-Thalassemia --epidemiology
dc.subject.meshbeta-Thalassemia --genetics
dc.subject.meshbeta-Thalassemia --prevention & control
dc.titleMolecular epidemiology of β-thalassemia in Pakistan: Far reaching implications.en_US
dc.typeArticleen_US
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