Neonatal Cyanosis Due to A New ^Gγ-Globin Variant Causing Low Oxygen Affinity: Hb F-Sarajevo [^Gγ102(G4)Asn→Thr, AAC>ACC]

Urs Zimmermann-BaerClinic of Neonatology, Department of Pediatrics, Cantonal Hospital Winterthur, Winterthur, Switzerland

Ralph CapaloClinic of Neonatology, Department of Pediatrics, Cantonal Hospital Winterthur, Winterthur, Switzerland

Fabrizio DutlyInstitute for Medical & Molecular Diagnostics Ltd., Zürich, Switzerland

Elisabeth SallerInstitute for Medical & Molecular Diagnostics Ltd., Zürich, Switzerland

Heinz TroxlerDivision of Clinical Chemistry, Department of Pediatrics, University of Zürich, Zürich, Switzerland

Malcolm KohlerPulmonary Clinic, University Hospital Zürich, Zürich, Switzerland

Hannes FrischknechtInstitute for Medical & Molecular Diagnostics Ltd., Zürich, SwitzerlandCorrespondence[email protected]

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Abstract

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 ^Aγ^T 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].

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Neonatal Cyanosis Due to A New ^Gγ-Globin Variant Causing Low Oxygen Affinity: Hb F-Sarajevo [^Gγ102(G4)Asn→Thr, AAC>ACC]

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Neonatal Cyanosis Due to A New Gγ-Globin Variant Causing Low Oxygen Affinity: Hb F-Sarajevo [Gγ102(G4)Asn→Thr, AAC>ACC]

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Neonatal Cyanosis Due to A New ^Gγ-Globin Variant Causing Low Oxygen Affinity: Hb F-Sarajevo [^Gγ102(G4)Asn→Thr, AAC>ACC]