title: A Czechoslovakian teenager with Hb E-beta zero-thalassemia [IVS-I-1 (G----A)] complicated by the presence of an alpha-globin gene triplication.
abstract: 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.
authors.affiliation: Department of Cell and Molecular Biology Medical College of Georgia, Augusta 30912-2100.
authors.forename: K
authors.initials: K
authors.lastname: Indrak
authors.forename: Y J
authors.initials: YJ
authors.lastname: Fei
authors.forename: H W
authors.initials: HW
authors.lastname: Li
authors.forename: E
authors.initials: E
authors.lastname: Baysal
authors.forename: V
authors.initials: V
authors.lastname: Brabec
authors.forename: H
authors.initials: H
authors.lastname: Fortova
authors.forename: J
authors.initials: J
authors.lastname: Cermak
authors.forename: T H
authors.initials: TH
authors.lastname: Huisman
mesh_terms: 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
chemical_list: D005914:Globins; D006446:Hemoglobin E