Haematologica
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Haematologica, Vol 90, Issue Suppl, ECR20-ECR20
Copyright © 2005 by Ferrata Storti Foundation

Case Reports

A 4 base pair TGAT insertion at codon 116 of the beta globin gene causes beta0-thalassemia

H Frischknecht, R Kiewitz, and M Schmugge

Institute for Medical & Molecular Diagnostics Rautistr. 13, CH-8047 Zurich, Switzerland. hannes@imdlab.ch

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.




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Copyright © 2005 by the Ferrata Storti Foundation.