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α-Globin mutations and Genetic Variants in γ-globin Promoters are Associated with Unelevated Hemoglobin F Expression of Atypical β0-thalassemia/HbE.

Archives of medical research - 1 Sept 2024

Satthakarn Surada, Panyasai Sitthichai

Abstract excerpt

BACKGROUND: Excessive expression of hemoglobin F (HbF) is a characteristic feature and important diagnostic marker of β0-thalassemia/HbE disease. However, some patients may exhibit low-HbF levels, leading to misdiagnosis and precluding genetic counseling. The genetic factors influencing these differences in HbF expression in this atypical disease are not completely understood. AIMS: To investigate determinants...

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Identifiers

PMID: 39029212
DOI: 10.1016/j.arcmed.2024.103055

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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