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Hemoglobin
international journal for hemoglobin research
Volume 47, 2023 - Issue 3
66
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Research Articles

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

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Pages 118-121 | Received 25 May 2023, Accepted 19 Jul 2023, Published online: 28 Jul 2023
 

Abstract

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 and reverse hybridization. Sanger sequencing was conducted for further identification. A severe β-globin gene mutation in codon 8/9 [+G] was initially identified in the proband and his mother’s DNA samples. However, the detection of only one β-globin gene mutation was not enough to elucidate the patient’s severe phenotype. Thus, a rare mutation in the initiation codon was identified later in the proband and his father by Sanger sequencing. In thalassemias, the presence of a rare mutation should be suspected when the patient’s genotype does not correlate with the phenotype.

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.

Additional information

Funding

Not applicable.

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