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Mutational analysis of hemoglobin genes and functional characterization of detected variants, through in-silico analysis, in Pakistani beta-thalassemia major patients.

Scientific reports - 14 Aug 2023

Ejaz Samina, Abdullah Iqra, Usman Muhammad, Iqbal Muhammad Arslan, Munawar Sidra, Khan Muhammad Irfan, Imtiaz Nagina, Tahir Hanniah, Bari Muhammad Ihsan, Rasool Tayyaba, Fatima Aneeza, Anwar Ramsha, Durrani Ayman, Hameed Yasir

Abstract excerpt

Thalassemia is one of the most prevalent genetic disorders worldwide. The present study aimed to explore the mutational spectrum of all hemoglobin (HB) encoding genes and to identify the potentially damaging and pathogenic variants in the beta (β)-thalassemia major patients and thalassemia minor carriers of Southern Punjab, Pakistan. A total of 49 β-thalassemia major patients and 49 carrier samples were screened...

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Identifiers

PMID: 37580329
DOI: 10.1038/s41598-023-35481-1
PMCID: PMC10425424

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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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