Neonatal cyanosis due to a new (G)γ-globin variant causing low oxygen affinity: Hb F-Sarajevo [(G)γ102(G4)Asn→Thr, AAC>ACC]

Hemoglobin. 2012;36(2):109-13. doi: 10.3109/03630269.2012.655872. Epub 2012 Mar 2.

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 (G)γ-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 (A)γ(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].

Publication types

  • Case Reports

MeSH terms

  • Base Sequence
  • Cyanosis / diagnosis
  • Cyanosis / genetics*
  • Cyanosis / metabolism
  • DNA Mutational Analysis
  • Female
  • Fetal Hemoglobin / genetics*
  • Hemoglobins, Abnormal / genetics
  • Humans
  • Infant, Newborn
  • Molecular Sequence Data
  • Oxygen / metabolism*
  • Point Mutation*
  • Sequence Homology, Amino Acid
  • gamma-Globins / genetics*

Substances

  • Hemoglobins, Abnormal
  • gamma-Globins
  • Fetal Hemoglobin
  • hemoglobin Kansas
  • Oxygen