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Article

[Phenotypic modification of β-Thalassemia by variants of SUPT5H gene: Report of two pedigrees and a literature review].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jul 2026

Huang Xiangyuan, Zhong Lijuan, Zhang Rui

Abstract excerpt

OBJECTIVE: To investigate the genetic and clinical characteristics of two Chinese pedigrees exhibiting β-thalassemia traits due to variants of SUPT5H gene and conduct a literature review. METHODS: Two pregnant women and their family members with abnormal thalassemia screening results were selected as study subjects. Clinical data were collected, and peripheral blood DNA was extracted for thalassemia-targeted gene...

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Identifiers

PMID: 42342637
DOI: 10.3760/cma.j.cn511374-20250425-00252

Genes

SUPT5H
HBB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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