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Detection of a Rare Mutation in the Initiation Codon of the β-Globin Gene (HBB:C.2T > C; P.Met1Thr).

Hemoglobin - 1 May 2023

Shamoon Rawand, Yassin Ahmed, Charkaneh Amir

Abstract excerpt

β-thalassemia is one of the most common inherited autosomal disorders in the northern Iraqi Kurdistan region. This study reports a rare mutation in the initiation codon of the β-globin gene (HBB: c.2T > C; p.Met1Thr) in an 11-year-old male with severe transfusion-dependent β-thalassemia. Molecular testing to uncover the mutations of the β-globin gene in the proband and his parents was performed by amplification...

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Identifiers

PMID: 37503544
DOI: 10.1080/03630269.2023.2240708

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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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