Article
Heterozygosity for the IVS-I-5 (G-->C) mutation with a G-->A change at codon 18 (Val-->Met; Hb Baden) in cis and a T-->G mutation at codon 126 (Val-->Gly; Hb Dhonburi) in trans resulting in a thalassemia intermedia.
Biochimica et biophysica acta - 10 Dec 1992
Divoky V, Bissé E, Wilson J B, Gu L H, Wieland H, Heinrichs I, Prior J F, Huisman T H
Abstract excerpt
We have analyzed the hemoglobins of a young German patient with beta-thalassemia intermedia and of his immediate family and included in these studies an evaluation of possible nucleotide changes in the beta-globin genes through sequencing of amplified DNA. One chromosome of the propositus and one of his father's carried the GTG-->GGG mutation at codon 126 leading to the synthesis of Hb Dhonburi or alpha 2 beta...
Topics
- Amino Acid Sequence
- Base Sequence
- Child
- Codon
- Globins
- Hemoglobins, Abnormal
- Heterozygote
- Humans
- Male
- Molecular Sequence Data
- Mutation