Hb Chapel Hill or Alpha2 74(EF3) Asp>Gly, a mildly unstable variant found in a Chinese family.
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DOI: 10.1080/16078454.2023.2187154
Abstract: 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:… read more here.
Keywords: ef3 asp; chapel hill; hill; hill alpha2 ... See more keywords