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Hereditary Elliptocytosis overview

Published: July 16, 2009. Updated: August 09, 2009

Hereditary Elliptocytosis is a disease with autosomal dominant inheritance and has a similar incidence to hereditary spherocytosis.

Symptoms

Symptoms are identical to HS, they range from asymptomatic to severe.

Abnormality revolves around spectrin leading to skeletal changes which can cause the cell to fragment

Asymptomatic group (majority)

Haemolytic anaemia group

Haematological Profile

More than 25% elliptocytes are required for a diagnosis of elliptocytosis

Because erythropoiesis is compensated for, polychromasia is present

Treatment

Splenectomy, if more than 5 years old (corrects anaemia due to haemolysis, still more susceptible to infection (vaccination becomes even more essential) and the haemolysis is severe.


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