Comparison of Two Known Chromosomal Rearrangements in the δβ-Globin Complex with Identical DNA Breakpoints But Causing Different Hb A2 Levels.: Gene rearrangement in the β-globin complexReportar como inadecuado




Comparison of Two Known Chromosomal Rearrangements in the δβ-Globin Complex with Identical DNA Breakpoints But Causing Different Hb A2 Levels.: Gene rearrangement in the β-globin complex - Descarga este documento en PDF. Documentación en PDF para descargar gratis. Disponible también para leer online.

* Corresponding author 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 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.

keyword : hemoglobin thalassemia gene rearrangement HbA2 levels β-globin gene cluster





Autor: Elisabeth Saller - Kamran Moradkhani - Fabrizio Dutly - Isabelle Vinatier - Claude Préhu - Hannes Frischknecht - Michel Goossens

Fuente: https://hal.archives-ouvertes.fr/



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