%Hb A2, %Hb F, %G gamma values and the haplotypes in the beta-globin gene cluster in Japanese adults with elevated Hb F.
The percentages of minor adult hemoglobin (%Hb A2) in hemolysates and G gamma-globin chain (%G gamma) in fetal Hb (Hb F) of 15 individuals with elevated Hb F levels (2.0-11%) among 11,000 healthy Japanese adults were examined. Most of them might be carriers for the determinants of hereditary persistence of fetal hemoglobin. Subjects with less than 1.3% Hb A2, some of whom might be also carriers for delta-thalassemia determinants, had high G gamma values (54-70%). Those homozygous for a subhaplotype [+-----] 5' to the delta-globin gene had low to mid G gamma values (7-49%), while those homozygous for [-++-++] possessed high G gamma values (60-85%), but varied Hb F values (3.1-11%). Those heterozygous for the presence of the XmnI site 5' to (-158 bp to the cap site of) the G gamma-globin gene had mid to high G gamma values (53-65%). Factors for the high or low G gamma-globin gene expression in the Japanese adult with elevated Hb F level should be highly associated with a subhaplotype [-++-++] or [+-----], respectively.
Shimizu
K
K
Department of Morphology, Institute for Developmental Research, Aichi Prefectural Colony, Japan.
Keino
H
H
D000328:Adult; D005319:Fetal Hemoglobin / Q000235:genetics* / Q000378:metabolism; D005914:Globins / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics*; D006443:Hemoglobin A2 / Q000235:genetics*; D006453:Hemoglobinopathies / Q000235:genetics*; D006801:Humans; D007564:Japan / Q000453:epidemiology; D005810:Multigene Family / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*
D005914:Globins; D006443:Hemoglobin A2; D005319:Fetal Hemoglobin