[Hereditary spherocytosis: guidelines for the diagnosis and management in children]

Arch Pediatr. 2008 Sep;15(9):1464-73. doi: 10.1016/j.arcped.2008.04.023. Epub 2008 Jun 16.
[Article in French]

Abstract

Hereditary spherocytosis (HS) is the commonest inherited disorder of the erythrocyte membrane in Northern Europe and North America. It is marked by a regenerative anemia which varies widely from asymptomatic patients to severe hemolysis. In 75% of HS patients, inheritance is autosomal dominant. The diagnosis of HS is easily made when there are a family history, hemolytic anemia, reticulocytosis, spherocytes and increased hyperdense cells. Specialized testing to clarify the nature of membrane disorder is required when the film appearance is atypical without a positive family history, in the absence of a family history, in the newborn and before the splenectomy, to rule out the stomatocytosis which is contraindicated. The indication for splenectomy is dependent on the degree of anemia and its clinical manifestation.

Publication types

  • English Abstract

MeSH terms

  • Child
  • Cholecystectomy
  • Erythrocyte Membrane / physiology
  • Erythrocyte Transfusion
  • Erythropoietin
  • Humans
  • Recombinant Proteins
  • Spherocytosis, Hereditary / diagnosis*
  • Spherocytosis, Hereditary / genetics
  • Spherocytosis, Hereditary / therapy*
  • Splenectomy

Substances

  • Recombinant Proteins
  • Erythropoietin