Article
Hb Chapel Hill or Alpha2 74(EF3) Asp>Gly, a mildly unstable variant found in a Chinese family.
Hematology (Amsterdam, Netherlands) - 1 Dec 2023
Tang Bin, Wang Jicheng, Qin Danqinq, Yao Cuize, Chen Keyi, Liang Lihua, Chai Huiying, Guo Hao, Du Li
Abstract excerpt
BACKGROUND: Hb Chapel Hill [Alpha2 74(EF3) Asp > Gly] results from an GAC > GGC substitution at codon 74 of the HBA1 or HBA2 genes. Hb Chapel Hill has not been reported since 1986. METHODS: A heterozygous mutation, HBA2: c.224A > G, was identified in the proband, her father and sister. We compared the haematological and clinical data of this family with the data reported in the limited number of individuals....
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