**Spherocytosis**
**Definition**
Spherocytosis is a hereditary blood disorder characterized by the presence of abnormally shaped red blood cells called spherocytes, which are sphere-shaped rather than the typical biconcave disc shape. This condition primarily leads to hemolytic anemia due to the premature destruction of these fragile cells.
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### Overview
Spherocytosis is most commonly inherited in an autosomal dominant pattern, although autosomal recessive forms also exist. It results from defects in proteins that maintain the red blood cell membrane’s structural integrity, such as ankyrin, spectrin, band 3, or protein 4.2. These defects cause the red blood cells to lose their normal shape and become less flexible, making them prone to destruction in the spleen.
### Symptoms
Individuals with spherocytosis may experience anemia, jaundice, fatigue, and an enlarged spleen (splenomegaly). In severe cases, complications such as gallstones and aplastic crises can occur.
### Diagnosis
Diagnosis is typically made through blood tests showing spherocytes on a peripheral blood smear, increased reticulocyte count, and tests such as the osmotic fragility test or eosin-5’-maleimide (EMA) binding test.
### Treatment
Management depends on severity and may include folic acid supplementation, blood transfusions, and in some cases, splenectomy to reduce red blood cell destruction. Regular monitoring is essential to manage complications.
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**Meta Description**
Spherocytosis is a hereditary blood disorder causing sphere-shaped red blood cells that lead to hemolytic anemia. It is diagnosed through blood tests and managed with supportive treatments and sometimes splenectomy.