© Kamla-Raj 2003                                                                      Int J Hum Genet, 3(4): 217-219 (2003)



Spectrum of b-Thalassemia Mutations in Punjabis


Gurjeewan Garewal and Reena Das


Department of Haematology, Postgraduate Institute of Medical Education and

Research, Chandigarh, India


KEYWORDS b-thalassemia; genetic defects; Punjabis; PCR  


ABSTRACT In the present paper the prevalence of the b-thalassemia has been reported. It has been assaved that the trust is 3.5% and nearly half of these individuals belong to the Khatri-Arora castes. These families have migrated from the South-west districts of the undivided Punjab, now in Pakistan. In thalassemia major families, the common five mutations account for 93.5% of the alleles with another 3.35 % with CAP+1 and–88 (C-T), facilitating the prenatal diagnosis of thalassemia in this population.


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