Elevated Hb A₂ Levels in a Patient with a Compound Heterozygosity for the (β⁺) -31 (A > G) and (β⁰) Codon 17 (A > T) Mutations Together with a Single α-Globin Gene.

doi:10.3109/03630269.2015.1047513

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Article

Elevated Hb A₂ Levels in a Patient with a Compound Heterozygosity for the (β⁺) -31 (A > G) and (β⁰) Codon 17 (A > T) Mutations Together with a Single α-Globin Gene.

Hemoglobin - 1 Jan 2015

Panyasai Sitthichai, Jaiping Kanokwan, Pornprasert Sakorn

Abstract excerpt

We report the molecular and hematological feature of a Thai woman who had clinical diagnosis of β-thalassemia intermedia (β-TI). Hemoglobin (Hb) high performance liquid chromatography (HPLC) analysis identified Hb A (64.4%), Hb F (12.3%) and Hb A2/E (15.9%) with small peaks of Hb Bart's (γ4) and Hb H (β4). She was initially diagnosed as EA Bart's disease, which occurs from combination of Hb H disease and Hb E...

Topics

Adolescent
Codon
DNA Mutational Analysis
Erythrocyte Indices
Female
Genotype
Hemoglobin A2
Heterozygote
Humans
Middle Aged
Mutation
alpha-Globins
beta-Globins
beta-Thalassemia

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Open in PubMed

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PMID: 26029792
DOI: 10.3109/03630269.2015.1047513

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