Comparison of Two Known Chromosomal Rearrangements in the δβ-Globin Complex with Identical DNA Breakpoints But Causing Different Hb A(2) Levels.: Gene rearrangement in the β-globin complex

Elisabeth Saller 1 Kamran Moradkhani 2, 3 Fabrizio Dutly 1 Isabelle Vinatier 4 Claude Préhu 2, 3 Hannes Frischknecht 1 Michel Goossens 2, 3, *
* Auteur correspondant
1 IMD - Institute for Medical & Molecular Diagnostics Ltd
2 IMRB - Institut Mondor de Recherche Biomédicale
3 Service de Biochimie [Mondor]
4 Laboratoire CERBA
Abstract : We report three cases with very heterogeneous Hb A(2) 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 δ(0)β(+)-thalassemia (δ(0)β(+)-thal) deletion or to an insertion of a δ gene, known as Anti-Lepore. One patient showed, apart from drastically increased Hb A(2) 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 A(2) level. Two other patients had Hb A(2) levels in the lower borderline range and increased Hb F levels. Molecular analysis showed the Senegalese δ(0)β(+)-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 A(2) depending on the remaining number of δ genes.
keyword : hemoglobin thalassemia gene rearrangement HbA2 levels β-globin gene cluster
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Article dans une revue
Hemoglobin, Informa Healthcare, 2012, 36 (2), pp.177-82. 〈10.3109/03630269.2011.644651〉
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Soumis le : jeudi 24 janvier 2013 - 07:00:08
Dernière modification le : mercredi 29 novembre 2017 - 10:29:38
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Elisabeth Saller, Kamran Moradkhani, Fabrizio Dutly, Isabelle Vinatier, Claude Préhu, et al.. Comparison of Two Known Chromosomal Rearrangements in the δβ-Globin Complex with Identical DNA Breakpoints But Causing Different Hb A(2) Levels.: Gene rearrangement in the β-globin complex. Hemoglobin, Informa Healthcare, 2012, 36 (2), pp.177-82. 〈10.3109/03630269.2011.644651〉. 〈inserm-00685753〉

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