Novel Insights into Hb Shaare Zedek Associated with β 0 -Thalassemia: Molecular Characteristics, Genetic Origin and Diagnostic Approaches.

Autor: Satthakarn S; Faculty of Allied Health Sciences, Burapha University, Chonburi 20131, Thailand., Srisuwan W; Department of Medical Technology, School of Allied Health Sciences, University of Phayao, Phayao 56000, Thailand., Kunyanone N; Department of Medical Technology, Chiang Rai Prachanukroh Hospital, Chiang Rai 57000, Thailand., Panyasai S; Department of Medical Technology, School of Allied Health Sciences, University of Phayao, Phayao 56000, Thailand.
Jazyk: angličtina
Zdroj: International journal of molecular sciences [Int J Mol Sci] 2024 Aug 06; Vol. 25 (16). Date of Electronic Publication: 2024 Aug 06.
DOI: 10.3390/ijms25168578
Abstrakt: Hemoglobin Shaare Zedek (Hb SZ) is a rare structural α-Hb variant. Characterizing its genotype-phenotype relationship and genetic origin enhances diagnostic and clinical management insights. We studied a proband and six family members using high-performance liquid chromatography (HPLC), capillary electrophoresis (CE), PCR, and sequencing to analyze α- and β-globin genes and α-globin haplotypes. Pathogenicity predictions and a rapid diagnostic method were developed. The proband, his father, grandfather, and aunt had Hb migrating to the HbH-zone on CE and elevated fetal hemoglobin (HbF) on HPLC. Direct sequencing identified an A to G mutation at codon 56 of the α2-globin gene, characteristic of Hb SZ. Additionally, the proband carried a β-globin gene mutation [HBB.52A>T]. Mild thalassemia-like changes were observed in the proband, whereas individuals with only the Hb SZ variant did not exhibit these changes. Pathogenicity predictions indicated that Hb SZ is benign. The variant can be identified using restriction fragment length polymorphism (RFLP) and allele-specific PCR. The Thai variant of Hb SZ is associated with the haplotype [- - M - - - -]. Hb SZ is a non-pathological variant that minimally affects red blood cell parameters, even when it coexists with β 0 -thalassemia. HPLC and CE systems cannot distinguish it from other Hbs, necessitating DNA analysis for accurate diagnosis.
Databáze: MEDLINE
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