title: Compound heterozygosity for a beta zero-thalassemia (frameshift codons 38/39; -C) and a nondeletional Swiss type of HPFH (A----C at NT -110, G gamma) in a Czechoslovakian family.
abstract: We have analyzed the levels and composition of the fetal hemoglobin (Hb F) in several members of a Czechoslovakian family with a heterozygosity for a newly discovered beta zero-thalassemia (codons 38/39; -C), or for a newly detected nondeletional hereditary persistence of fetal hemoglobin (a form of Swiss-HPFH with an A----C mutation at nucleotide -100 5' to the Cap site of G gamma), or with a compound heterozygosity for these two conditions. The Hb F level in the beta zero-thalassemia heterozygotes averaged approximately 0.3% with low G gamma values (approximately 28%) and relatively high A gamma T values (approximately 50%), that in the two Swiss-HPFH heterozygotes averaged 0.8% with approximately 95% G gamma, while that of the compound heterozygote was 3.1% with approximately 95% G gamma. The low Hb F levels were determined with a recently published cation exchange high-performance liquid chromatography (HPLC) procedure that is accurate at the 0.1%-0.2% Hb F level. This method, together with a reversed-phase HPLC procedure, made it possible to detect this unusual type of nondeletional G gamma-HPFH and provided the data indicating that the increased Hb F in the compound heterozygote was derived mainly from the chromosome with the HPFH determinant.
authors.affiliation: Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.
authors.forename: K
authors.initials: K
authors.lastname: Indrak
authors.forename: J
authors.initials: J
authors.lastname: Indrakova
authors.forename: F
authors.initials: F
authors.lastname: Kutlar
authors.forename: D
authors.initials: D
authors.lastname: Pospisilova
authors.forename: I
authors.initials: I
authors.lastname: Sulovska
authors.forename: E
authors.initials: E
authors.lastname: Baysal
authors.forename: T H
authors.initials: TH
authors.lastname: Huisman
mesh_terms: D001483:Base Sequence; D003062:Codon; D004247:DNA / Q000032:analysis; D005319:Fetal Hemoglobin / Q000032:analysis / Q000235:genetics*; D014644:Genetic Variation; D006453:Hemoglobinopathies / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008969:Molecular Sequence Data; D010375:Pedigree; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
chemical_list: D003062:Codon; D004247:DNA; D005319:Fetal Hemoglobin