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[Cases Analysis of Hemoglobin H Disease Caused by HBA2:c.2T>C and HBA2:c.2delT Mutations].

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

Wang Qiu-Hua, Chen Xing-Yuan, Tang Ning, Yan Ti-Zhen, Huang Jun, Zhong Qing-Yan, Luo Shi-Qiang

Abstract excerpt

OBJECTIVE: To investigate two cases of rare pathogenic genes, initiation codon mutations in HBA2 gene, combined with Southeast Asian deletion and their family members to understand the relationship of HBA2:c.2T>C and HBA2:c.2delT mutations with clinical phenotype. METHODS: The peripheral blood of family members was obtained for blood cell analysis and capillary electrophoresis hemoglobin analysis. Gap-PCR and...

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Identifiers

PMID: 38660861
DOI: 10.19746/j.cnki.issn.1009-2137.2024.02.030

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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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