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.
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.
Frischknecht
Hannes
H
Institute for Medical & Molecular Diagnostics Ltd., Zürich, Switzerland.
Troxler
Heinz
H
Greiner
Jeanette
J
Hengartner
Heinz
H
Dutly
Fabrizio
F
D000354:Africa, Western; D003062:Codon / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005190:Family; D005260:Female; D006451:Hemoglobin, Sickle / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics*
D003062:Codon; D006451:Hemoglobin, Sickle