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

Haematologica - 1 Mar 2006

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

Abstract excerpt

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...

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PMID: 16533735

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