Congenital spherocytic hemolytic anemia

Congenital spherocytic hemolytic anemia is a rare genetic disorder characterized by the presence of spherocytes (abnormally shaped red blood cells) in the bloodstream. This condition is also known as hereditary spherocytosis.

Etiology

Congenital spherocytic hemolytic anemia is caused by mutations in genes that code for proteins involved in the red blood cell membrane. These proteins include ankyrin, spectrin, and band 3 protein. The mutations lead to a loss of membrane surface area, causing the red blood cells to assume a spherical shape.

Pathophysiology

The spherical shape of the red blood cells in this condition makes them less flexible and more prone to rupture as they pass through the narrow capillaries in the spleen. This leads to hemolysis, or the destruction of red blood cells, resulting in anemia.

Clinical Presentation

Symptoms of congenital spherocytic hemolytic anemia can vary widely, from mild to severe. They may include fatigue, jaundice, and an enlarged spleen (splenomegaly). In severe cases, the condition can lead to life-threatening complications such as gallstones and aplastic crisis.

Diagnosis

Diagnosis of congenital spherocytic hemolytic anemia is typically made through a combination of clinical history, physical examination, and laboratory tests. These tests may include a complete blood count, reticulocyte count, and peripheral blood smear.

Treatment

Treatment for congenital spherocytic hemolytic anemia is primarily supportive and may include blood transfusions, folic acid supplementation, and in severe cases, splenectomy (removal of the spleen).

See Also

• Anemia
• Hemolytic anemia
• Hereditary elliptocytosis
• Hereditary stomatocytosis