Hereditary elliptocytosis, also known as hereditary ovalocytosis, is a condition which results from varying genetic mutations that lead to the formation of abnormally shaped red blood cells that are ovoid. It may cause a hemolytic anemia.
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Epidemiology
There are various geographic trends for the subtypes of the disease 1. Overall, the disease is more common in areas where malaria is common and there may be some genetic advantage to the disease in such areas 2. African-Americans and other people of diasporic sub-Saharan African ancestry are also noted to have an increased occurrence. Most common forms of the disease are not known to tend towards one sex or gender.
Clinical presentation
While some patients may be asymptomatic or have minimal symptoms, the condition can cause anemia, jaundice, splenomegaly and gallstones 3.
Pathology
There are many forms of disease. The most common forms are EL1, EL2, EL3, and EL4 which each results from a different genetic mutation. The common end result of all genetic mutations that are pathogenic is that there is change in the cell membranes of erythrocytes; in the cases of EL1, EL2, and EL3 via a spectrin mutation 2. The diseases have a carrier state.
Radiographic features
There are no specific radiographic manifestations of hereditary elliptocytosis that distinguish it from other hemolytic anemias. Some patients will present without radiologic findings however in some cases splenomegaly and cholelithiasis will be detected.
Treatment and prognosis
While some patients are referred for splenectomy, there is generally no specific treatment for the disease. Genetic counseling is advisable. In severe cases transfusions may be required. On average prognosis for the disease is extremely good.
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