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SynopsisHereditary elliptocytosis (HE) is a group of rare heterogeneous inherited red blood cell (RBC) disorders in which abnormalities in cytoskeletal proteins cause RBCs to be oval or elliptical, predisposing patients to hemolytic anemias of varying severity. Elliptocytes are caused by abnormalities in spectrin (alpha or beta); protein 4.1 or band 3 are most common and are inherited in an autosomal dominant pattern. Elliptocytes (at least 15%) will be seen on peripheral blood smear examination; however, the percentage may be lower if there is ongoing hemolysis.
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
- Iron deficiency anemia
- Thalassemias (eg, alpha, beta)
- Other inherited RBC disorders (eg, hereditary spherocytosis)
- Bone marrow disorders (eg, myelodysplastic syndrome, aplastic anemia)
- Hemolytic anemia due to warm or cold agglutinins
- Other hemolytic anemias (eg, glucose-6-phosphate dehydrogenase deficiency)