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: Jana Lozar-Krivec, Maja Stepic, Tinka Hovnik, Mladen Krsnik, Darja Paro-Panjan
• Journal: Journal of pediatric hematology/oncology (J Pediatr Hematol Oncol) Vol. 38 Issue 7 Pg. e267-70 (10 2016) ISSN: 1536-3678 [Electronic] United States
• PMID: 27571121 (Publication Type: Case Reports, Journal Article)

Chemical References

• Hemoglobins, Abnormal
• Fetal Hemoglobin

Topics

• Cyanosis (genetics)
• Fetal Hemoglobin (genetics)
• Hemoglobins, Abnormal (genetics)
• Humans
• Infant, Newborn
• Male
• Mutation