Article
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.
Annals of hematology - 1 Aug 1991
Indrak K, Indrakova J, Kutlar F, Pospisilova D, Sulovska I, Baysal E, Huisman T H
Abstract excerpt
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...
Topics
- Base Sequence
- Codon
- DNA
- Fetal Hemoglobin
- Genetic Variation
- Hemoglobinopathies
- Heterozygote
- Humans
- Molecular Sequence Data
- Pedigree
- Thalassemia