4th Palermo Conference on INNOVATIVE THERAPIES FOR LYMPHOID MALIGNANCIES
Haematologica, Vol 92, Issue 3, 423-424 doi:10.3324/haematol.10785
Copyright © 2007 by Ferrata Storti Foundation
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Red Cell Disorders

A 65 bp duplication/insertion in exon II of the ß-globin gene causing ß0-thalassemia

Hannes Frischknecht, Fabrizio Dutly

Institute for Medical & Molecular Diagnostics Ltd., Zürich, Switzerland

Correspondence: Hannes Frischknecht, Institute for Medical & Molecular Diagnostics Ltd., Rautistrasse 13, CH-8047 Zürich, Switzerland. Phone: international +41.44.4973060. Fax: international +41.44.4973070. E-mail: hannes{at}imdlab.ch, dutly{at}imdlab.ch

We describe a patient originating from Ghana who had combined heterozygous -{alpha}4.2 thalassemia, {alpha}{alpha}{alpha}anti3.7 triplication, the common {delta} globin variant HbA2’ and a new 65 bp duplication/insertion in exon II of the ß globin gene causing ß0-thalassemia.

Key words: duplication/insertion, ß-thalassemia.