Depending on the specific mutation and other factors, patients may present with signs of chronic hemolysis of varying severity, resulting in anemia, splenomegaly, and/or gallstones. However, many patients are asymptomatic.
Onset can occur at any age; however, with more severe forms (such as hereditary pyropoikilocytosis) symptoms will present in the neonatal period and can be associated with aplastic crisis due to parvovirus B19 infection.
HE is most common in people of African, Mediterranean, or Southeast Asian descent.
D58.1 – Hereditary elliptocytosis
191169008 – Hereditary Elliptocytosis
Differential Diagnosis & Pitfalls