Variation in the level of fetal hemoglobin in (delta beta) (0)-thalassemia heterozygotes with different numbers of alpha-globin genes.
The Sicilian type of (delta beta) (0)-thalassemia characterized by a approximately 13 kb deletion, was present in a Turkish boy who is a homozygote and in his heterozygous parents who are first cousins. The father with approximately 21% Hb F had five alpha-globin genes (alpha alpha/alpha alpha alpha) and the mother with approximately 10% Hb F had an alpha-thal-2 heterozygosity (alpha alpha/-alpha). The difference in Hb F level is explained by a decreased formation of alpha 2 gamma 2 tetramers in the mother with an alpha-chain deficiency while the extra alpha-globin gene in the father will promote Hb F production.
Department of Cell and Molecular Biology, Medical College of Georgia, Augusta.
C
C
Oner
A
A
Gurgey
C
C
Altay
F
F
Kutlar
T H
TH
Huisman
D002675:Child, Preschool; D002872:Chromosome Deletion; D004247:DNA / Q000235:genetics; D005319:Fetal Hemoglobin / Q000032:analysis*; D005796:Genes; D005914:Globins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
D005914:Globins; D004247:DNA; D005319:Fetal Hemoglobin