Definition:
Hereditary elliptocytosis is a blood disorder in which a large proportion of the sufferer's erythrocytes (i.e. red blood cells) are elliptical instead of being biconcave disc-shaped. The disorder comes before haemolytic anaemia.
Diagnosis:
The following tests may help diagnose the condition: CBC may show anemia or cell destruction; a smear of the blood may show elliptical red blood cells; bilirubin may be high; LDH may be high; and/or cholecystogram (x-ray of gallbladder) may show gallstones.
Treatment:
The vast majority of those with hereditary elliptocytosis need no treatment whatsoever. They have a slightly increased risk of developing gallstones, which is treated surgically with a cholecystectomy if pain becomes problematic.
Folate helps to reduce the extent of haemolysis in those with significant haemolysis resulting from hereditary elliptocytosis.
Because the spleen is the bodily organ which breaks down old and worn-out blood cells, those individuals with more severe forms of hereditary elliptocytosis can have a splenomegaly which leads to a worsening of the signs and symptoms of their anaemia.
Symptoms and Signs:
Patients experiencing hemolysis may have pallor, jaundice, or splenomegaly. Patients with severe neonatal HE or HPP may show signs of chronic anemia, such as frontal bossing, failure to thrive, and splenomegaly.
Causes:
Hereditary elliptocytosis and its variants are inherited predominantly in an autosomal dominant fashion.
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