title: Neonatal Cyanosis Due to Hemoglobin Variant: Hb F-Sarajevo.
abstract: Neonatal cyanosis is rarely due to hemoglobin variants with low oxygen affinity. We describe the clinical course and results of molecular genetic analysis of a boy who presented after birth with severe cyanosis. Arterial blood-gas analysis demonstrated a pronounced shift of the oxygen-hemoglobin dissociation curve to the right and molecular genetic analysis revealed a γ-globin variant, Hb F-Sarajevo. The patient presented is the second reported case of neonatal cyanosis due to this mutation, which was first described in 2012 by Zimmermann-Baer and coauthors. With the introduction of universal screening for congenital heart disease, the finding of low oxygen saturation will uncover more neonates with hemoglobinopathies with low oxygen affinity.
authors: *Department of Neonatology, Division of Paediatrics †Division of Paediatrics, Centre for Medical Genetics ‡Institute of Clinical Chemistry and Biochemistry, University Medical Centre Ljubljana, Slovenia.
authors: Jana
authors: J
authors: Lozar-Krivec
authors: Maja
authors: M
authors: Stepic
authors: Tinka
authors: T
authors: Hovnik
authors: Mladen
authors: M
authors: Krsnik
authors: Darja
authors: D
authors: Paro-Panjan
mesh_terms: D003490:Cyanosis / Q000235:genetics*; D005319:Fetal Hemoglobin / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation
chemical_list: D006455:Hemoglobins, Abnormal; D005319:Fetal Hemoglobin