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[Molecular Diagnosis and Pedigree Analysis of Rare Mutations in Non-coding Region of HBA2 Gene].

Zhongguo shi yan xue ye xue za zhi - 1 Jun 2024

Chen Li-Zhu, Yan Ti-Zhen, Huang Jun, Zhong Qing-Yan, Qin Xue, Tang Ning, Luo Shi-Qiang

Abstract excerpt

OBJECTIVE: To perform molecular diagnosis and pedigree analysis for one case with α-thalassemia who does not conform to the genetic laws, and explore the effects of a newly discovered rare mutation (HBA2:c.*12G>A) on clinical phenotypes. METHODS: Blood samples of the proband and her family members were collected for blood routine analysis, and the hemoglobin components were analyzed by capillary electrophoresis....

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Identifiers

PMID: 38926992
DOI: 10.19746/j.cnki.issn.1009-2137.2024.03.044

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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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