Transient neonatal cyanosis associated with a new Hb F variant: Hb F viseu

J Pediatr Hematol Oncol. 2013 Mar;35(2):e77-80. doi: 10.1097/MPH.0b013e3182667be3.

Abstract

Neonatal cyanosis in healthy newborns can be associated either with methemoglobin due to cytochrome b5 reductase deficiency or to M-hemoglobin, a group of hemoglobin variants resulting from mutations in the globin chain genes. We report the clinical case of a neonate with cyanosis and normal cardiac and respiratory function. At birth the hematological parameters were normal; however, the methemoglobinemia was 16%. Spontaneously, the cyanosis gradually decreased and by the fifth month of age the methemoglobin level was normal. A heterozygous Gγ-globin gene (HBG2) missense mutation 87 C-A (Leu28Met) was identified. His father, with a history of transfusion in the neonatal period, is heterozygous for the same mutation. This hemoglobin variant, not previously described, was called Hb F Viseu and is the sixth Gγ-chain variant reported in association with neonatal cyanosis.

Publication types

  • Case Reports

MeSH terms

  • Cyanosis / etiology*
  • Fetal Hemoglobin / genetics*
  • Hemoglobin M / genetics*
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Methemoglobin / analysis

Substances

  • Hemoglobins, Abnormal
  • hemoglobin Viseu
  • Methemoglobin
  • Fetal Hemoglobin
  • Hemoglobin M