Spherocytosis
Spherocytosis
Spherocytosis (/sfɪəroʊsaɪˈtoʊsɪs/) is a genetic disorder of the red blood cells (RBCs) that leads to an abnormal shape of the cells. The term is derived from the Greek words "sphaira" meaning sphere and "kytos" meaning cell, referring to the spherical shape of the RBCs in this condition.
Causes
Spherocytosis is most commonly caused by a genetic mutation in one of several genes that produce proteins for the RBC membrane. These include the ANK1 gene, the SPTB gene, and the SLC4A1 gene. The mutations lead to a deficiency or malfunction of these proteins, causing the RBCs to become spherical and less flexible.
Symptoms
The main symptoms of spherocytosis include anemia, jaundice, and an enlarged spleen (splenomegaly). The severity of the symptoms can vary widely, from mild to severe, depending on the specific genetic mutation and the degree of RBC abnormality.
Diagnosis
Diagnosis of spherocytosis is typically made through a combination of blood tests, including a complete blood count (CBC) and a peripheral blood smear, and genetic testing to identify the specific mutation. The osmotic fragility test is a specific test used to diagnose this condition.
Treatment
Treatment for spherocytosis primarily involves managing the symptoms and preventing complications. This may include folic acid supplementation, blood transfusions, and in severe cases, splenectomy (removal of the spleen).
Prognosis
With appropriate treatment, most individuals with spherocytosis can lead a normal life. However, they may require ongoing medical monitoring and treatment to manage their symptoms and prevent complications.
See also
External links
- Medical encyclopedia article on Spherocytosis
- Wikipedia's article - Spherocytosis
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