A 4 base pair TGAT insertion at codon 116 of the beta globin gene causes beta0-thalassemia.
A new beta(0) thalassemia allele caused by a TGAT insert in codon 116 of exon III was detected in a patient compound heterozygous for beta(0) thalassemia / Hb D Los Angeles and his father. The mutation unexpectedly causes a classical thalassemic phenotype. The compound heterozygosity leads to mild microcytic anemia and no further clinical signs.
Frischknecht
Hannes
H
Institute for Medical & Molecular Diagnostics Rautistr. 13, CH-8047 Zürich, Switzerland. hannes@imdlab.ch
Kiewitz
Roland
R
Schmugge
Markus
M
D002675:Child, Preschool; D003062:Codon / Q000235:genetics; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D016368:Frameshift Mutation; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D016254:Mutagenesis, Insertional; D010641:Phenotype; D017422:Sequence Analysis, DNA; D017086:beta-Thalassemia / Q000235:genetics*
D003062:Codon; D018389:Codon, Nonsense; D005914:Globins