Open AccessA 65 bp duplication/insertion in exon II of the -globin gene causing 0-thalassemia
Author(s) -
Hannes Frischknecht,
Fabrizio Dutly
Publication year - 2007
Publication title -
haematologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.782
H-Index - 142
eISSN - 1592-8721
pISSN - 0390-6078
DOI - 10.3324/haematol.10785
Subject(s) - gene duplication , exon , thalassemia , genetics , gene , biology , globin , compound heterozygosity , microbiology and biotechnology , mutation
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 b globin gene causing beta (0)-thalassemia.