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HbA2:c.96-2A > G mutation: report of 7 cases in China.

Hematology (Amsterdam, Netherlands) - 1 Dec 2024

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

Abstract excerpt

OBJECTIVE: To analyze the hematological phenotype and genotype of HbA2: c.96-2A > G carriers. METHODS: The blood routine parameters and hemoglobin electrophoresis of rare cases were analyzed and identified by PCR combined with reverse dot blot (RBD-PCR), GAP-PCR and DNA sequencing. RESULTS: Among the 7 patients, one adult patient had normal hemoglobin levels, with slightly decreased mean corpuscular volume (MCV)...

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PMID: 39530711
DOI: 10.1080/16078454.2024.2426829

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