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Hereditary spherocytosis

Hereditary spherocytosis Causes

An intrinsic genetic defect results to defects in membrane proteins. Hemolysis in HS arises from the interplay of an intact spleen and an intrinsic membrane protein defect that leads to abnormal RBC morphology.

Hereditary spherocytosis Definition

Hereditary spherocytosis is a genetically-transmitted form of spherocytosis, an auto-hemolytic anemia marked by the production of red blood cells that are sphere-shaped rather than donut-shaped, and therefore more prone to hemolysis.

Hereditary spherocytosis Diagnosis

In a peripheral blood smear, the abnormally small red blood cells lacking the central pallor as seen in non-hereditary spherocytosis is typically more prominent in hereditary spherocytosis. Other protein deficiencies result to hereditary elliptocytosis, pyropoikilocytosis or stomatocytosis.

Hereditary spherocytosis Symptoms and Signs

As in non-hereditary spherocytosis, the spleen's hemolysis leads to observational symptoms of fatigue, pallor, and jaundice.

Hereditary spherocytosis Treatment

As in non-hereditary spherocytosis, acute symptoms of anemia and hyperbilirubinemia point to treatment with blood transfusions or exchanges and chronic symptoms of anemia and splenomegaly point to dietary supplementation of iron and splenectomy, the surgical removal of the spleen. Experimental gene therapy exists to treat hereditary spherocytosis in lab mice; however, this treatment has not yet been administered on humans and because of the risks involved in human gene therapy, it may never be.

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