Human heme oxygenase-1 deficiency presenting with hemolysis, nephritis, and asplenia

J Pediatr Hematol Oncol. 2011 Jan;33(1):74-8. doi: 10.1097/MPH.0b013e3181fd2aae.

Abstract

Heme oxygenase-1 (HO-1) is a stress-induced enzyme that catalyses the oxidation of heme to biliverdin. The primary deficiency of this enzyme has been shown in HO-1 knockout mice, and is characterized by intrauterine death and chronic inflammation. The first case of human HO-1 deficiency was reported in 1999. Human HO-1 deficiency has been observed to involve the endothelial cells more severely, resulting in hemolysis and disseminated intravascular coagulation. We report another case of human HO-1 deficiency in a young girl with congenital asplenia, who presented with severe hemolysis, inflammation, nephritis, which was refractory to therapy with corticosteroids, cyclophosphamide, and rituximab.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Female
  • Heme Oxygenase-1 / deficiency*
  • Heme Oxygenase-1 / genetics
  • Heme Oxygenase-1 / metabolism
  • Hemolysis*
  • Humans
  • Inflammation
  • Mutation
  • Nephritis / genetics
  • Nephritis / pathology*
  • Spleen / abnormalities*
  • Spleen / pathology*

Substances

  • Heme Oxygenase-1