A new (G)gamma-globin variant causing low oxygen affinity: Hb F-Brugine/Feldkirch [(G)gamma105(G7)Leu-->His; HBG2: c.317T>A].
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Saller E, Kohne E, Dutly F, Frischknecht H
A new (G)gamma-globin variant causing low oxygen affinity: Hb F-Brugine/Feldkirch [(G)gamma105(G7)Leu-->His; HBG2: c.317T>A].
Hemoglobin. 2014;38(2):84-7. doi: 10.3109/03630269.2013.870079. Epub 2014 Feb 7.
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- 24502349 [ View in PubMed]
- Abstract
In two unrelated families, several newborns developed cyanosis within the first days of life. For all of them, consecutive arterial blood gas analyses showed a right shift of the saturation curve, suggesting the presence of a hemoglobin (Hb) variant. A new (G)gamma-globin variant was detected, namely (G)gamma105(G7)Leu --> His; HBG2: c.317T > A, that we named Hb F-Brugine/Feldkirch after the place of origin of the two families. This T to A conversion results in a leucine to histidine amino acid change at codon 105 of the (G)gamma-globin gene and caused a Hb variant with lowered oxygen affinity. The gamma to beta switch proceeded normally.