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Article

Molecular characterization of beta-thalassemia in Pakistan.

Hemoglobin - 1 Jul 1998

Khan S N, Riazuddin S

Abstract excerpt

Beta-thalassemia is one of the most common inherited hemoglobin disorders in Pakistan. The carrier frequency is estimated to be 5.4%. To determine the spectrum of beta-globin gene defects causing beta-thalassemia, we have analyzed a representative sample of 602 alleles from six ethnic groups in Pakistan; 99.2% alleles were characterized, while 0.8% remained unidentified. The spectrum of mutations is heterogeneous...

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PMID: 9730364
DOI: 10.3109/03630269809071528

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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