Hereditary Elliptocytosis Case Study

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In hereditary spherocytosis, symptoms and signs are usually mild. The anemia may be so well compensated that it is not recognized until an intercurrent viral illness, such as parvovirus infection, transiently decreases RBC production, causing an aplastic crisis. These episodes can be self-limited, resolving with resolution of the infection, while others require urgent treatment. Moderate jaundice and symptoms of anemia are present in severe cases. Splenomegaly is almost invariable but only rarely causes abdominal discomfort. Hepatomegaly may be present. Cholelithiasis (pigment stones) is common and may be the presenting symptom. Congenital skeletal abnormalities (eg, tower-shaped skull, polydactylism) occasionally occur. Although usually one or more family members have had symptoms, several generations may be skipped because of variations in the degree of gene penetrance.

In hereditary elliptocytosis, clinical features are similar to those of hereditary spherocytosis but tend to be milder.

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