Abstract
We report two novel β-thalassemia (β-thal) deletions involving the 5′ region of the β-globin gene (HBB). The first deletion spans 538 bp and removes the β-globin promoter, 5′ untranslated region (5′UTR) and most of exon 1. This deletion was identified in a 3-year-old Vietnamese boy with non transfusion dependent Hb E (HBB: c.79G>A)/β0-thal. The second deletion spans 1517 bp and removes the β-globin gene promoter, 5′UTR, and exons 1 and 2. This deletion was identified in two unrelated adults of European descent who had β-thal trait with unusually high Hb A2 levels. Deletions such as these are generally associated with higher levels of Hb A2 and Hb F than typical β-thal alleles, which may ameliorate the severity of the disease.
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The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.