Fetal hemoglobin variants in 80,000 Japanese neonates: high prevalence of Hb F Yamaguchi (AγT 80Asp→Asn)

A population-based screening of newborns for the structural variants of fetal hemoglobin was carried out in Osaka Prefecture, Japan, by isoelectric focusing of globin chains using dried blood on filter paper. Of 80,000 newborns, 18 had alpha globin variants and 55 had gamma globin variants. The inci...

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Bibliographic Details
Published in:Human genetics 1986-03, Vol.72 (3), p.196-202
Main Authors: WADA, Y, FUJITA, T, KIDOGUCHI, K, HAYASHI, A
Format: Article
Language:English
Subjects:
Adult
Amino Acids - analysis
Biological and medical sciences
Fetal Blood - analysis
Fetal Hemoglobin - analysis
Fetal Hemoglobin - genetics
Fundamental and applied biological sciences. Psychology
Genetic Variation
Genetics of eukaryotes. Biological and molecular evolution
Globins - analysis
Globins - genetics
Hemoglobins, Abnormal - analysis
Hemoglobins, Abnormal - genetics
Human
Humans
Infant, Newborn
Isoelectric Focusing
Japan
Population genetics, reproduction patterns
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Summary:A population-based screening of newborns for the structural variants of fetal hemoglobin was carried out in Osaka Prefecture, Japan, by isoelectric focusing of globin chains using dried blood on filter paper. Of 80,000 newborns, 18 had alpha globin variants and 55 had gamma globin variants. The incidence of gamma globin variants (1/1,455) was much higher than that of alpha globin variants (1/4,444). Structural studies were then carried out on the abnormal gamma globins in 36 samples, and revealed that 25 of them were Hb F Yamaguchi (A gamma T 80 Asp---Asn). The prevalence of this variant in Japanese was estimated to be as high as one per 2,100.
ISSN:0340-6717
1432-1203
DOI:10.1007/bf00291877