ContentsSynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferences
Hereditary elliptocytosis
Print
Other Resources UpToDate PubMed

Hereditary elliptocytosis

Print Images (1)
Contributors: Nina Haghi MD, Carla Casulo MD, Paritosh Prasad MD
Other Resources UpToDate PubMed

Synopsis

Hereditary 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.

For more information, see OMIM.

Codes

ICD10CM:
D58.1 – Hereditary elliptocytosis

SNOMEDCT:
191169008  – Hereditary Elliptocytosis

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

Best Tests

Subscription Required

Management Pearls

Subscription Required

Therapy

Subscription Required

References

Subscription Required

Last Reviewed: 03/19/2018
Last Updated: 04/17/2018
Copyright © 2019 VisualDx®. All rights reserved.
Hereditary elliptocytosis
Print 1 Images
Hereditary elliptocytosis : Jaundice, Hemolytic anemia, Splenomegaly
Copyright © 2019 VisualDx®. All rights reserved.