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Journal articles
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
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.
https://www.hal.inserm.fr/inserm-00685753
Contributor : Georges Guellaen <>
Submitted on : Thursday, January 24, 2013 - 7:00:08 AM
Last modification on : Wednesday, August 19, 2020 - 11:17:03 AM
Long-term archiving on: : Thursday, April 25, 2013 - 2:30:11 AM
Contributor : Georges Guellaen <>
Submitted on : Thursday, January 24, 2013 - 7:00:08 AM
Last modification on : Wednesday, August 19, 2020 - 11:17:03 AM
Long-term archiving on: : Thursday, April 25, 2013 - 2:30:11 AM
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Table_HbA2_level_20.7.2011.pdf
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