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Spectrum of beta-thalassemia mutations in various regions of Punjab and Islamabad, Pakistan: establishment of prenatal diagnosis

Authors: Shahid Mahmood Baig,* Ayesha Azhar,* Hammad Hassan

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Abstract: We present here an analysis of 888 unrelated
beta-thal chromosomes consisting of 444 transfusion
dependent children from various regions of
Punjab and Islamabad Pakistan. By using Multiplex
ARMS- PCR, restriction endonuclease analysis,
allele specific oligonucleotide (ASO) hybridization
and sequencing, 17 beta-thal mutations and 3 Hb
variants were detected in 99.5% (884/888) of the
chromosomes analyzed. First trimester prenatal
diagnosis by chorionic villus sampling (CVS) was
also carried out in seven pregnancies at risk of
beta-thalassemia. Our results indicate that three
most common mutations accounted for 86.8% of
the beta-thal alleles in this region. These findings
have important implications for prevention of betathalassemia
through genetic counseling and prenatal
diagnosis in this part of Pakistan.