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Disease Information for Spherocytosis, hereditary: Definition
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- 136 possible findings found
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- External Links Related to Spherocytosis, hereditary
A familial congenital hemolytic anemia characterized by numerous abnormally shaped erythrocytes which are generally spheroidal; The erythrocytes have increased osmotic fragility and are abnormally permeable to sodium ions;----------------------------------------
Hereditary Spherocytic Hemolytic; Acholuric Jaundice;
Chronic Acholuric Jaundice; Congenital Hemolytic Anemia
Congenital Hemolytic Jaundice; Congenital Spherocytic Anemia; HS; Hereditary Spherocytosis; SPH2; Spherocytic Anemia; Spherocytosis.
Discussion: Hereditary Spherocytic Hemolytic Anemia is a rare blood disorder characterized by defects within red blood cells (intracorpuscular) that result in a shortened survival time for these cells; Red blood cells (erythrocytes) normally circulate for a few months and when they die off are replaced by new erythrocytes; However, in Hereditary Spherocytic Hemolytic Anemia, the cells die prematurely. They also have low amounts of fats (lipid) in the cell membranes and an abnormally small amount of surface area; The red blood cells are sphere shaped (spherocytic) making it difficult for them to pass through the spleen, resulting in the early destruction of these cells (hemolysis); The sphere shape of the red blood cells is the hallmark of Hereditary Spherocytic Hemolytic Anemia, and this abnormality may be identified under a microscope; Hereditary Spherocytic Hemolytic Anemia is caused by an inherited metabolic defect [NORD 2005].