Spectrum of beta-thalassemia mutations in various regions of Punjab and Islamabad, Pakistan: establishment of prenatal diagnosis |
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Authors: | Baig Shahid Mahmood Azhar Ayesha Hassan Hammad Baig Jamshaid Mahmood Kiyani Ayesha Hameed Uzma Rabbi Fazli Bokhari Habib Aslam Muhammad Ud Din Mohammad Amin Baig Shehla Anjum Hassan Khalid Qureshi Javed Anwar Zaman Tariq |
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Affiliation: | Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology & Genetic Engineering (NIBGE), Faisalabad, Pakistan. shahidbaig@nibge.org |
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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 beta-thalassemia through genetic counseling and prenatal diagnosis in this part of Pakistan. |
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