What Is Genetic Disorder - Hereditary Spherocytosis
Hereditary spherocytosis may present with symptoms and signs such as hemolytic anemia, pigmented gallstones, present of spherocytes on the peripheral blood smears, scleral icterus, jaundice, increase erythrocyte osmotic fragility and reticulocytosis.
Hereditary spherocytosis may lead to defect in the spectrin / erythrocytic membrane protein. Hereditary spherocytosis is an autosomal dominant disorder.
In normal individual, erythrocytes membrane is supported by protein scaffold ( spectrin) which maintain the biconcave erythrocytes shaped and make erythrocytes deformable to fit through the capillaries as well as splenic fenestrations.
Hereditary spherocytosis occurs due to the mutation of the spectrin which lead to loss of biconcave shape of the erythrocytes, loss of deformable properties of erythrocytes and reduction in the surface volume ratio.
In this case the erythrocytes unable to pass the splenic fenestration which lead to accumulation of the erythrocytes in the spleen ( cause splenomegaly) that later hemolyzed.
The treatment of hereditary spherocytosis may include supplement of folic acid and splenectomy.
The aim of the splenectomy is to eliminate hemolytic site.