A Czechoslovakian teenager with Hb E-beta zero-thalassemia [IVS-I-1 (G----A)] complicated by the presence of an alpha-globin gene triplication.
We have examined the molecular basis of three inherited hemoglobin (Hb) disorders present in a Czechoslovakian girl with a severe, transfusion-dependent, hemolytic anemia. She is heterozygous for Hb E (on a genetic background specific for Czechoslovakian families), heterozygous for the beta zero-thalassemia (thal) allele IVS-I-1 (G----A), and heterozygous for an alpha-globin gene triplication. The combination of these three undesirable traits results in a severe chain imbalance that is the basis of the serious hemolytic disorder observed in this teenager.
Indrak
K
K
Department of Cell and Molecular Biology Medical College of Georgia, Augusta 30912-2100.
Fei
Y J
YJ
Li
H W
HW
Baysal
E
E
Brabec
V
V
Fortova
H
H
Cermak
J
J
Huisman
T H
TH
D000293:Adolescent; D000743:Anemia, Hemolytic / Q000097:blood / Q000209:etiology*; D003604:Czechoslovakia; D005260:Female; D005914:Globins / Q000235:genetics*; D006446:Hemoglobin E / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D010375:Pedigree; D013789:Thalassemia / Q000097:blood / Q000150:complications* / Q000235:genetics
D005914:Globins; D006446:Hemoglobin E