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Hereditary Spherocytosis is an inherited red blood cell disorder in which red blood cells develop an abnormal spherical shape instead of their normal flexible, disc-like structure. This change usually results from defects in proteins that maintain the red blood cell membrane, making the cells fragile and more likely to break down prematurely.

The condition is commonly inherited in an autosomal dominant pattern, although autosomal recessive forms can also occur. Symptoms vary widely, ranging from mild disease with few noticeable problems to significant anaemia. Common features include fatigue, weakness, pale skin, jaundice, and an enlarged spleen. Some individuals may develop pigment gallstones because ongoing red blood cell breakdown increases bilirubin production.

Diagnosis typically involves a complete blood count, blood smear examination, reticulocyte count, bilirubin testing, and specialised tests that assess red blood cell membrane stability. A family history of similar symptoms can also support diagnosis.

Treatment depends on disease severity. Mild cases may only require regular monitoring and folic acid supplementation. More severe cases may require blood transfusions or surgical removal of the spleen, known as splenectomy. Appropriate vaccination and medical monitoring are important when splenectomy is considered.

With proper diagnosis and management, many people with hereditary spherocytosis can lead active and healthy lives.