Congenital spherocytic anemia

Congenital spherocytic anemia is a rare, inherited blood disorder that affects the red blood cells. It is characterized by the presence of spherocytes (abnormally shaped red blood cells) in the blood, leading to a variety of symptoms including anemia, jaundice, and an enlarged spleen.

Etiology

Congenital spherocytic anemia is caused by a genetic mutation that affects the proteins within the red blood cells. These proteins, including spectrin, ankyrin, and band 3 protein, are responsible for maintaining the cell's normal, biconcave shape. When these proteins are defective, the red blood cells become spherical (spherocytes) and are more prone to destruction in the spleen, leading to anemia.

Symptoms

The symptoms of congenital spherocytic anemia can vary greatly from person to person. Some individuals may have mild symptoms, while others may have severe symptoms. Common symptoms include fatigue, pale skin, yellowing of the skin and eyes (jaundice), and an enlarged spleen (splenomegaly). In severe cases, individuals may also experience gallstones and leg ulcers.

Diagnosis

Diagnosis of congenital spherocytic anemia is typically made through a combination of clinical examination, family history, and laboratory tests. The most definitive test is the osmotic fragility test, which measures the ability of the red blood cells to withstand changes in osmotic pressure. Other tests may include a complete blood count (CBC), reticulocyte count, and peripheral blood smear.

Treatment

Treatment for congenital spherocytic anemia is aimed at managing the symptoms and preventing complications. This may include blood transfusions, folic acid supplementation, and in some cases, removal of the spleen (splenectomy).

See also

• Anemia
• Hemolytic anemia
• Hereditary spherocytosis
• Spherocytosis