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Home > West Medicine > Internal Medicine > Hematology
D58.100

Hereditary Elliptocytosis

血液科

Common symptoms

溶血性贫血

The pathology of disease

Hereditary elliptocytosis is a hereditary disease characterized by increased elliptical cells (≥25%) in peripheral blood. Normal peripheral blood may contain a few elliptical RBCs, but at most 15%; in hereditary elliptocytosis these cells number at least 25%, more often >75%, even up to 90%.

Common Symptoms

Anemia; jaundice; splenomegaly

Causes and Pathogenesis

Caused by inherited RBC-membrane cytoskeletal defects (spectrin, protein 4.1, glycophorin C) leading to elliptical RBC shape, reduced deformability and splenic hemolysis.

Treatment

Supportive therapy; splenectomy in symptomatic cases

Preventive Measures

Genetic counseling; most carriers are asymptomatic; splenectomy for clinically significant hemolysis.

Department to Visit

It is recommended to visit the Hematology department; an appointment can be booked on this platform before the visit.

Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.