Abstract: Hereditary elliptocytosis is a red blood cell membrane disorder that results from a mutation in genes encoding various red cell membrane and skeletal proteins. The disorder is autosomal dominant with an incidence of about 1 in 4000 cases per year, with both sexes equally affected. It is characterized by hemolysis of erythrocytes of varying degrees of severity (occurring mainly in the spleen), reticulocytosis, splenomegaly and reduced osmotic resistance of red blood cells. Peripheral smears of these patients reveal ellipsoidal erythrocytes. In most cases, hereditary elliptocytosis does not cause clinical manifestations. The purpose of the present report is to present to the general audience a rare clinical case from our practice in the field of clinical hematology, reporting the case of a 51-year-old woman diagnosed with hereditary elliptocytosis after her admission to the department. In the report, we describe the disease mechanism, the main guidelines and methods used that led to the diagnosis of hereditary elliptocytosis, as well as treatment options and prognosis.

Keywords: hereditary elliptocytosis, elliptocytes, erythrocyte membrane, anemia, hemolysis

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