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Phenotypic Analysis of the HBA2: C.95 G > A Mutation in China.

Hemoglobin - 1 Sept 2024

Liang Jian-Lian, Ge Yi-Yuan, Xie Long-Xu, Zeng Guang-Kuan, Yu Xiao-Hua, Liao Yu-Wei, Liu Li-Li, Cao Yan-Bin, Lai Bai-Ru, Zeng Yan-Qing, Huang Yu-Chan, Yang Li-Ye

Abstract excerpt

This study aimed to analyze the clinical phenotype of the HBA2: c.95G>A mutation in the Chinese population and to provide guidance for clinical diagnosis and genetic counseling. Peripheral blood samples were collected from 16 patients, including 6 newborns, 2 children, and 8 adults. Hematological parameters and hemoglobin electrophoresis were analyzed, and genotypes were identified using methods such as PCR...

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PMID: 39501461
DOI: 10.1080/03630269.2024.2424303

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