What is Hereditary Spherocytosis

Hereditary Spherocytosis is a genetic disorder characterized by abnormal red blood cells (RBCs) that are spherical in shape instead of the normal biconcave disc shape. These abnormal RBCs are more prone to being destroyed by the spleen, leading to a condition called hemolytic anemia.

The condition is caused by mutations in genes responsible for the structural proteins of RBCs, such as ankyrin, spectrin, or band 3. These mutations result in weakened RBC membranes, making them less flexible and more prone to rupture.

Common symptoms of hereditary spherocytosis include fatigue, pale skin, jaundice, and an enlarged spleen. The severity of the condition can vary, ranging from mild to severe, and may require different treatment approaches.

Diagnosis is typically made through a combination of physical examination, blood tests, and genetic testing. Treatment options may include folic acid supplementation, blood transfusions, and in severe cases, splenectomy (surgical removal of the spleen).

Hereditary Spherocytosis is a lifelong condition, but with proper management and regular follow-up, individuals with this disorder can lead healthy lives.