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Saller E.,IMD Institute for Medical and Molecular Diagnostics Ltd. | Moradkhani K.,AP HP | Moradkhani K.,French Institute of Health and Medical Research | Dutly F.,IMD Institute for Medical and Molecular Diagnostics Ltd. | And 6 more authors.
Hemoglobin | Year: 2012

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. © 2012 Informa Healthcare USA, Inc. Source


Zimmermann-Baer U.,Clinic of Neonatology | Capalo R.,Clinic of Neonatology | Dutly F.,IMD Institute for Medical and Molecular Diagnostics Ltd. | Saller E.,IMD Institute for Medical and Molecular Diagnostics Ltd. | And 3 more authors.
Hemoglobin | Year: 2012

A baby girl, born at term, presented with severe cyanosis and received oxygen supplementation. Consecutive arterial blood gas analysis showed a pronounced right shift of the saturation curve, suggesting the presence of a hemoglobin (Hb) variant. A new Gγ-globin variant was detected, namely HBG2:c.308G, which we have named Hb F-Sarajevo, the city from where the baby's parents originate. This A to C transversion exists in cis to the common AγT and the resulting mutant Hb molecule exhibits very low oxygen affinity and cooperativity. Its analogue in the β-globin gene is Hb Kansas [β102(G4)Asn→Thr, AAC>ACC]. © 2012 Informa Healthcare USA, Inc. Source

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