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Detection of Transversions and Transitions in HBG2 Cis-Elements Associated with Sickle Cell Allele in Ghanaians.

Biochemical genetics - 1 Apr 2024

Ababio G K, Ekem I, Acquaye J, Oppong S Y, Amoah A G B, Brandful J, Quaye I K

Abstract excerpt

Short tandem repeats located 5' prime to the β-globin gene, have been observed to be in linkage disequilibrium with the HbS allele, and thought to affect the severity of sickle cell disease. Here, we report on new mutants within the HBG2 region that may impact sickle cell disease. To determine the cis-acting elements microsatellites, indels and single nucleotide polymorphisms (SNPs), within the HBG2 region by...

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PMID: 37395849
DOI: 10.1007/s10528-023-10438-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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