Article
Compound heterozygosity for Hb S [beta6(A3)GluVal, GAG-->GTG] and a new thalassemic mutation [beta132(H10)Lys-->term, AAA-->TAA] detected in a family from West Africa.
Hemoglobin - 1 Jan 2008
Frischknecht Hannes, Troxler Heinz, Greiner Jeanette, Hengartner Heinz, Dutly Fabrizio
Abstract excerpt
We describe a Hb S/beta-thalassemia (beta-thal) mutation involving an AT transition at codon 132 of the beta-globin gene. The mutation, in the heterozygous state, unlike several other mutations in exon 3, shows no signs of dominant thalassemia but those of a typical beta(0) carrier. Compound heterozygosity with Hb S [beta6(A3)GluVal, GAGGTG] showed a severe clinical picture.
Topics
- Africa, Western
- Codon
- Exons
- Family
- Female
- Hemoglobin, Sickle
- Heterozygote
- Humans
- Male
- Mutation
- beta-Thalassemia