Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2012 May;18(2):193-7.
doi: 10.4103/0971-6866.100762.

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

Saqib H Ansari  1 , Tahir S Shamsi, Mushtaq Ashraf, Tasneem Farzana, Muneera Bohray, Kousar Perveen, Sajida Erum, Iqra Ansari, Muhammad Nadeem Ahmed, Masood Ahmed, Faizan Raza
Affiliations

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

Saqib H Ansari et al. Indian J Hum Genet. 2012 May.

Abstract

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.

Keywords: Gene frequency; genetic epidemiology; prenatal diagnosis; thalassaemia prevention.

PubMed Disclaimer

Conflict of interest statement

Conflict of Interest: None declared

Figures

Figure 1
Figure 1
Distribution chart
Figure 2
Figure 2
Individual with β-thalassemia trait based on hematological indices
See this image and copyright information in PMC

References

    1. Weatherall DJ, Clegg JB. The Thalassemia Syndromes. 4th ed. Oxford: Blackwell Sci; 2001.
    1. Angastiniotis M, Modell B. Global epidemiology of hemoglobin disorders. Ann N Y Acad Sci. 1998;850:251–69. - PubMed
    1. Ahmed S, Saleem M, Modell B, Petrou M. Screening extended families for genetic hemoglobin disorders in Pakistan. N Engl J Med. 2002;347:1162–8. - PubMed
    1. Cao A, Rosatelli MC, Galanello R. Control of β-thalassemia by carrier screening, genetic counselling and prenatal diagnosis: The Sardinian experience. Ciba Found Symp. 1996;197:137. discussion 151-5. - PubMed
    1. Karimi M, Jamalian N, Yarmohammadi H, Askarnejad A, Afrasiabi A, Hashemi A. Premarital screening for β-thalassemia in Southern Iran: Options for improving the program. J Med Screen. 2007;14:62–6. - PubMed