title: 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.
abstract: 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.
authors.affiliation: Institute for Medical & Molecular Diagnostics Ltd., Zürich, Switzerland.
authors.forename: Hannes
authors.initials: H
authors.lastname: Frischknecht
authors.forename: Heinz
authors.initials: H
authors.lastname: Troxler
authors.forename: Jeanette
authors.initials: J
authors.lastname: Greiner
authors.forename: Heinz
authors.initials: H
authors.lastname: Hengartner
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Dutly
mesh_terms: 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*
chemical_list: D003062:Codon; D006451:Hemoglobin, Sickle