Hereditary elliptocytosis

Hereditary elliptocytosis

Hereditary elliptocytosis is a rare medical condition.

The manifestations of this disease might vary from mild to severe hemolytic anemia which is transfusion dependent

This condition is a heterogenous disorder of the membrane of the red cell, the heterogenicity is clinical and genetical.

Mandatory Symptoms and Signs (100% present)

Majority of the affected are asymptomatic

Abnormal erythrocyte morphology

Common Symptoms and Signs (30%-79%)

  • Elliptocytosis 
  • Increased red cell osmotic fragility 

Occasional Symptoms and Signs (5%-29%)

  • Congenital hemolytic anemia 
  • Hemolytic anemia
  • Hyperbilirubinemia 
  • Jaundice
  • Neonatal hyperbilirubinemia 
  • Poikilocytosis 
  • Prolonged neonatal jaundice 
  • Reticulocytosis
  • Splenomegaly 
  • Stomatocytosis 

Rare Symptoms and Signs (4%-1%)

  • Abdominal pain 
  • Chills
  • Cholelithiasis
  • Fever 
  • Frontal bossing 
  • Hydrops fetalis 
  • Postnatal growth retardation 

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