Hereditary Elliptocytosis

Hereditary elliptocytosis (HE) is an inherited disorder of red cell membrane skeletal proteins with elliptical cells.

• Autosomal dominant mutations in alpha spectrin (SPTA1), beta spectrin, protein 4.1 (EPB41); prevalence 1 in 2000 to 4000, higher in malaria regions.
• Variants: common HE (mostly asymptomatic), spherocytic HE, hereditary pyropoikilocytosis (HPP, severe, homozygous or compound with SPTA1 low expression alleles), Southeast Asian ovalocytosis (band 3, protective against malaria).
• Haemolysis is mild in most; transient severe neonatal haemolysis in some.

• Often asymptomatic, found incidentally.
• Mild anaemia, splenomegaly, intermittent jaundice, gallstones.
• Severe: transfusion dependent anaemia, hepatosplenomegaly, growth failure (HPP), neonatal jaundice.

• Blood film: elliptocytes (over 25 to 50%), schistocytes and microspherocytes in HPP.
• Mild reticulocytosis, normal or mildly raised bilirubin, raised LDH in haemolytic cases.
• Osmotic gradient ektacytometry, EMA binding, SDS PAGE of membrane proteins; thermal sensitivity (HPP fragments at 45 C).
• Genetic testing for spectrin and 4.1 genes.
• Exclude iron deficiency, thalassaemia, myelofibrosis, megaloblastic anaemia, mechanical causes.

• Asymptomatic: reassurance, family counselling.
• Haemolytic forms: folic acid 1 to 5 mg daily; transfusion during aplastic or haemolytic crises.
• Splenectomy for severe transfusion dependent anaemia or HPP (partial splenectomy in young children); vaccinate (pneumococcus, meningococcus, Hib) and prophylactic penicillin V 250 mg twice daily.
• Cholecystectomy for symptomatic gallstones.
• Neonatal hyperbilirubinaemia: phototherapy, exchange transfusion if needed.
• Monitor ferritin, growth.