Article
Identification of two new alpha-thalassemia mutations in exon 2 of the alpha1-globin gene.
Hemoglobin - 1 Nov 2001
Waye J S, Eng B, Patterson M, Carcao M D, Chang L, Olivieri N F, Chui D H
Abstract excerpt
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...
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