Interactions of electrophoretically silent hemoglobin Hekinan II [HBA1:c.84G>T] with various forms of α-thalassemias and other hemoglobinopathies: novel insights into the molecular and hematological characteristics and genetic origins.

Autor: Panyasai S; Department of Medical Technology, School of Allied Health Sciences, University of Phayao, Phayao, Thailand., Chantanaskulwong P; Department of Medical Technology, Phare Hospital, Phare, Thailand., Permsripong N; Department of Medical Technology, Uttaradit Hospital, Uttaradit, Thailand., Mokmued T; Department of Medical Technology, Uttaradit Hospital, Uttaradit, Thailand.
Jazyk: angličtina
Zdroj: The Libyan journal of medicine [Libyan J Med] 2024 Dec 31; Vol. 19 (1), pp. 2406620. Date of Electronic Publication: 2024 Sep 23.
DOI: 10.1080/19932820.2024.2406620
Abstrakt: To determine the molecular basis, genotype - phenotype relationship, and genetic origin of Hemoglobin (Hb) Hekinan associated with several forms of α-thalassemia and other hemoglobinopathies for a better understanding of its diverse clinical phenotypes. Seventeen participants with suspected abnormal Hb were studied. Hb analysis was performed using high-performance liquid chromatography (HPLC) and capillary electrophoresis (CE). Mutational and α-haplotypic and structural analyses were conducted, and the effects of mutations on globin-chain stability were determined. All participants harbored Hb Hekinan II (HBA1:c.84 G>T) co-inherited with another α-globin gene anomaly. Three novel genotypes, (αα HekinanCS α), (αα HekinanCS α,β AE ), and (αα HekinanCS α,β EE ), were characterized. Despite being co-inherited with both α- and β-Hb variants Hb Hekinan II led to minimal changes in erythrocyte parameters, suggesting a non-pathological nature. HPLC but not CE revealed a distinct small shoulder-like Hb pattern. Thai Hb Hekinan II was strongly associated with haplotype [+ - S + - - -] and the possibility of four different haplotypes, while two Burmese Hb Hekinan II were associated with haplotypes [± - S + - + -] and [± - S + - - -]. The novel genotypes identified provide a fresh perspective on Hb Hekinan II diversity. HPLC has superior identification capabilities for samples of Hb Hekinan II co-inherited with α-thalassemia. Thai and Burmese Hb Hekinan II have diverse origins.
Databáze: MEDLINE
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