Abstract
We describe two cases of simple heterozygosity for the common β°-thalassemia mutation β39 (C → T), both presenting with a thalassemia intermedia phenotype. In both cases synergic effect deriving from membrane defects or red cell enzyme deficiencies were excluded. In one case a triplication of the α-globin genes was found which did not justify the severity of the transfusion-dependent phenotype. Multiplex ligation-dependent probe amplification (MLPA) analysis of the α-globin gene cluster revealed two new rearrangements, consisting of a full duplication of the α-globin genes locus including the upstream regulatory element. In one case the duplication was in the presence of the common anti-α3.7 triplication in trans, resulting in a total of 7 active α-globin genes. In the other case the duplicated allele and the normal allele in trans resulted into a total of 6 active α-globin genes. We report the clinical and hematological data and the molecular analysis and discuss the occurrence of α-globin genes duplication defects in cases of β-thalassemia heterozygotes with thalassemia intermedia phenotypes.
Original language | English |
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Pages (from-to) | 312-316 |
Number of pages | 5 |
Journal | Blood cells, molecules & diseases |
Volume | 40 |
Issue number | 3 |
DOIs | |
Publication status | Published - May 2008 |
Keywords
- α-globin genes
- 16p
- MLPA
- Thalassemia intermedia
ASJC Scopus subject areas
- Molecular Biology
- Molecular Medicine
- Hematology