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Article

Third-generation sequencing identified a novel complex variant in a patient with rare alpha-thalassemia.

BMC pediatrics - 13 May 2024

Zhou Cong, Du Yepei, Zhang Haixia, Wei Xing, Li Rui, Wang Jing

Abstract excerpt

BACKGROUND: Thalassemias represent some of the most common monogenic diseases worldwide and are caused by variations in human hemoglobin genes which disrupt the balance of synthesis between the alpha and beta globin chains. Thalassemia gene detection technology is the gold standard to achieve accurate detection of thalassemia, but in clinical practice, most of the tests are only for common genotypes, which can...

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Identifiers

PMID: 38741052
DOI: 10.1186/s12887-024-04811-1
PMCID: PMC11089783

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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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