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Article

A stepwise haematological screening and whole-exome sequencing reveal multiple mutations from SUPT5H causing an elevation of Hb A2 from a cohort of 47336 individuals.

International journal of laboratory hematology - 1 Feb 2023

Lou Jiwu, Ye Yuhua, Sun Manna, Zhao Ying, Fu Youqing, Liu Yanhui

Abstract excerpt

INTRODUCTION: Though an increase in Hb A2 is one of the most key markers of β-thal carriers, a few independent cases are reported to show elevated Hb A2 levels caused by mutations in other genes beyond β-globin gene. METHODS: We reviewed the haematological indices of 47336 individuals to analyse the phenotype-genotype correlation and identified 1439 individuals (3.04%) positive in the elevation of Hb A2 . Globin...

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Source

Identifiers

PMID: 36054783
DOI: 10.1111/ijlh.13959

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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