Spherocytosis
Spherocytosis Causes
Spherocytosis is caused by a molecular defect in one or multiple proteins of the red blood cell cytoskeleton. Due to the defect in the cell skeleton, the blood cells shrink assuming the sphere shape instead of the normal donut shape.
Spherocytosis Definition
Spherocytosis is a hereditary blood disorder wherein red blood cells are sphere-shaped instead of the normal bi-concaved disk shape. These sphere-shaped red blood cells are referred to as spherocytes. The spleen damages the cells because they appear in a different sphere shape. This result in a lack of red blood cells called hemolytic anemia.
Spherocytosis Diagnosis
Blood test like cell blood count (CBC) can help diagnose Spherocytosis.
Spherocytosis Symptoms and Signs
Common signs and symptoms of Spherocytosis include jaundice, enlarged spleen, weakness, pale skin, fatigue, pigmented gallstones. Infection or other illness may cause proliferation in red blood cell destruction leading to the presentation of more acute and serious symptoms, referred to as hemolytic crisis in chronic cases of Spherocytosis.
Spherocytosis Treatment
Treatment of Spherocytosis depends on the symptoms whether acute or chronic, but there is no definite treatment that can cure the blood disorder itself. Symptomatic treatments include iron dietary supplementation, splenectomy or surgical removal of the spleen, blood transfusion and prophylactic antibiotics.