Neonatal screening and mass-spectrometric analysis of hemoglobin variants in Japan

Using dried blood on filter paper, neonatal screening and mass-spectrometric analysis of hemoglobin variants were carried out in Osaka Prefecture, Japan. The following results emerged. (1) Of 140,597 newborns screened, 28 alpha (1/5,000) and 91 gamma (1/1,500) chain variants were detected. (2) Of 65 gamma chain variants examined, more than half (in 40 samples) were Hb F Yamaguchi (A gamma T 80 Asp----Asn). This fact explains the high incidence of gamma chain variants in the present study. (3) Two new gamma chain variants, Hb F Fuchu (G gamma 21 Glu----Gln) and Hb F Minoo (G gamma 72 Gly----Arg), were detected.