Article
A Czechoslovakian teenager with Hb E-beta zero-thalassemia [IVS-I-1 (G----A)] complicated by the presence of an alpha-globin gene triplication.
Annals of hematology - 1 Jul 1991
Indrak K, Fei Y J, Li H W, Baysal E, Brabec V, Fortova H, Cermak J, Huisman T H
Abstract excerpt
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...
Topics
- Adolescent
- Anemia, Hemolytic
- Czechoslovakia
- Female
- Globins
- Hemoglobin E
- Heterozygote
- Humans
- Mutation
- Pedigree
- Thalassemia