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Rare β-Globin Gene Mutations in Pakistan.

Hemoglobin - 1 Mar 2017

Hussain Ahsan, Ahmed Suhaib, Ali Nadir, S Mailk Hamid, Anees Mariam, Chuahdry Altaf H, Ahmed Parvez

Abstract excerpt

The aim of this study was to analyze the rare β-thalassemia (β-thal) mutations in the Pakistani population. A total of 8716 unrelated Pakistani individuals having children with transfusion-dependent thalassemia were investigated by amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) for the previously reported common and rare β-thal mutations. Genomic sequencing of the β-globin gene and...

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Identifiers

PMID: 28670940
DOI: 10.1080/03630269.2017.1339612

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HBB

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