Hb Kalundborg [β79(EF3)Asp→Glu; HBB: c.240C>a], a Possible Low-affinity Hemoglobin Variant Detected during Hb A1c Measurement
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DOI: 10.1080/03630269.2022.2079520
Abstract: Abstract A previously unknown hemoglobin (Hb) variant was detected during measurement of glycosylated Hb (Hb A1c) after the introduction of a new high performance liquid chromatography (HPLC) apparatus. Subsequent DNA sequencing revealed a heterozygous single… read more here.
Keywords: ef3 asp; hemoglobin variant; variant detected; variant ... See more keywords
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