Survey of cord blood Hemoglobin in Japan and Identification of two new γ Chain Variants

Abstract

Two γ chain variants were discovered during a survey of 2,569 cord bloods of Japanese. One was the first case with mutation of the T-γ; chain, i. e. Hb F Yamaguchi or γ 80 (EF 4) Asp → Asn (75 Thr, 136 Ala). It comprised 33.6 % of Hb F, an unusually high percentage for a γ chain variant. The other concerned with the first report of substitution at E 16, i. e. Hb F Iwata or γ72 (E 16) Gly → Arg (75 Ile, 136 Ala). It comprised 11.0 % which is comparable to the values usually reported in an A-γ chain variant. No clinical consequences have been observed in association with the hemoglobin variants.