What is Spherocytosis?
Spherocytosis is a genetic blood disorder characterized by the presence of spherical-shaped red blood cells (spherocytes) instead of the normal biconcave shape.
These abnormal cells are more prone to premature destruction, leading to a condition known as hemolytic anemia. Spherocytosis can range from mild to severe and is typically inherited in an autosomal dominant pattern, meaning it can be passed down through families.
Side Effects of Spherocytosis
The primary complication of spherocytosis is hemolytic anemia, where the red blood cells are destroyed faster than the body can replace them. This can lead to symptoms such as:
- Fatigue
- Pale skin (pallor)
- Shortness of breath
- Jaundice (yellowing of the skin and eyes)
- Gallstones (due to increased bilirubin levels)
- Enlarged spleen (splenomegaly)
Severe cases may also result in an increased risk of certain infections.
How is Spherocytosis Diagnosed?
Diagnosis of spherocytosis typically involves a combination of medical history, physical examination, and laboratory tests:
- Blood Tests: A complete blood count (CBC) may reveal anemia and an increased number of reticulocytes (young red blood cells).
- Peripheral Blood Smear: A microscopic examination of a blood sample may show the characteristic spherical shape of the red blood cells.
- Osmotic Fragility Test: This test measures how fragile the red blood cells are when exposed to varying levels of salt solutions.
- Genetic Testing: DNA analysis can confirm the presence of genetic mutations associated with spherocytosis.
Potential Treatment of Spherocytosis
Treatment for spherocytosis aims to alleviate symptoms and prevent complications:
- Folic Acid Supplementation: Folic acid helps in the production of red blood cells and may be prescribed to manage anemia.
- Blood Transfusions: In severe cases of anemia, transfusions may be necessary to replenish red blood cells.
- Splenectomy: Surgical removal of the spleen (splenectomy) may be considered in cases of severe anemia or if the spleen is enlarged and causing problems.
- Supportive Care: This includes managing symptoms such as jaundice or gallstones and monitoring for complications such as infections.
👉 Contact us for further information and receive a complimentary consultation.
