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