Hb Athens-Georgia (beta 40(C6) Arg > Lys, HBB:c.122G > A) with a single α-globin gene (Hb H disease) in a Thai family: molecular, hematological, and diagnostic aspects.

doi:10.1080/00365513.2020.1852598

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Article

Hb Athens-Georgia (beta 40(C6) Arg > Lys, HBB:c.122G > A) with a single α-globin gene (Hb H disease) in a Thai family: molecular, hematological, and diagnostic aspects.

Scandinavian journal of clinical and laboratory investigation - 1 Feb 2021

Panyasai Sitthichai, Kunyanone Naowarat, Satthakarn Surada

Abstract excerpt

Interaction of structural hemoglobin (Hb) variants with α- or β-globin defects are occasional in Southeast Asia. Herein we provide the first description of Hb Athens-Georgia (Hb A-Ga) in association with deletional Hb H disease, a novel combination previously undescribed in the population. Hematological, Hb and DNA analysis, and β-globin haplotype analyses were performed in seven participants from one ethnic Thai...

Topics

Base Sequence
Electrophoresis, Capillary
Family
Female
Haplotypes
Hemoglobins, Abnormal
Humans
Male
Mutation
Pedigree
Thailand
Young Adult
alpha-Globins
alpha-Thalassemia

Source

Open in PubMed

Identifiers

PMID: 33287582
DOI: 10.1080/00365513.2020.1852598

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