Abstract
We report three cases with very heterogeneous Hb A2 levels caused by known chromosomal rearrangements in the β-globin locus. These rearrangements had their breakpoints at the same region in the δ gene, leading either to the Senegalese δ0β+-thalassemia (δ0β+-thal) deletion or to an insertion of a δ gene, known as Anti-Lepore. One patient showed, apart from drastically increased Hb A2 values of 17.0%, inconspicuous hematological values. He had an Anti-Lepore mutation with three copies of the δ gene, thus explaining the high Hb A2 level. Two other patients had Hb A2 levels in the lower borderline range and increased Hb F levels. Molecular analysis showed the Senegalese δ0β+-thal deletion. One of them presented with an additional mild β-thal mutation leading to β-thal intermedia. These cases illustrate that different gene rearrangements with the same breakpoints in the δ gene can lead to different levels of Hb A2 depending on the remaining number of δ genes.
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