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Hemoglobin. 2014;38(2):84-7. doi: 10.3109/03630269.2013.870079. Epub 2014 Feb 7.

A new (G)γ-globin variant causing low oxygen affinity: Hb F-Brugine/Feldkirch [(G)γ105(G7)Leu→His; HBG2: c.317T>A].

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1
Institute for Medical & Molecular Diagnostics Ltd. , Zürich , Switzerland .

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)γ-globin variant was detected, namely (G)γ105(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)γ-globin gene and caused a Hb variant with lowered oxygen affinity. The γ to β switch proceeded normally.

PMID:
24502349
DOI:
10.3109/03630269.2013.870079
[Indexed for MEDLINE]

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