IDENTIFICATION OF TWO NEW α-THALASSEMIA MUTATIONS IN EXON 2 OF THE α1-GLOBIN GENE

The most common causes of alpha-thalassemia are deletions that remove one or both of the functional alpha-globin genes. In addition, more than 30 different point mutations and small deletions/insertions have been reported for the alpha-globin genes. Here, we describe two new mutations occurring in exon 2 of the alpha1-globin gene. One mutation is an insertion of 21 bp that gives rise to a predicted alpha-globin chain containing a duplication of …