What are the causes of Spherocytosis?
Spherocytosis is one of the most common inherited hemolytic anemias. It is caused by a defect in the erythrocyte membrane, which leads to an increased permeability for sodium and water, giving the erythrocyte its typical spherical form.
How does hereditary spherocytosis affect the body?
Hereditary spherocytosis is a condition that affects red blood cells. People with this condition typically experience a shortage of red blood cells (anemia ), yellowing of the eyes and skin (jaundice), and an enlarged spleen (splenomegaly).
Where is Spherocytosis most common?
Hereditary spherocytosis can be an autosomal recessive or autosomal dominant trait. Hereditary spherocytosis is most commonly (though not exclusively) found in Northern European and Japanese families, although an estimated 25% of cases are due to spontaneous mutations.
What are Spherocytes associated with?
Conditions Associated with Spherocytes. Examples of conditions in which spherocytes can be seen include hereditary spherocytosis and immune hemolytic anemias (ie, ABO incompatibility). Spherocytes can also form in conditions where there has been a direct physical or chemical injury to the cells.
What are the symptoms of Spherocytosis?
Hereditary spherocytosis is a condition characterized by hemolytic anemia (when red blood cells are destroyed earlier than normal). Signs and symptoms can range from mild to severe and may include pale skin, fatigue, anemia , jaundice , gallstones, and/or enlargement of the spleen.
How do you detect Spherocytosis?
The signs and symptoms of spherocytosis include:
- Anemia.
- Paleness (pallor)
- Jaundice (especially in children)
- Intermittent jaundice (more often in adults)
- Enlarged spleen (splenomegaly; a majority of all patients with spherocytosis)
- Gallstone development (for example, bilirubin stones due to spherocyte lysis)
Is Spherocytosis and autoimmune disease?
Spherocytosis may be present in autoimmune hemolytic anemia in which autoantibodies react with red blood cells and cause alterations in their membranes that includes lysis of red blood cells. Spherocytes may develop during this destruction of red blood cells.
How do you test for Spherocytosis?
A blood draw will be done to get a complete blood count, an immature red blood cell (reticulocyte) count, and a look at the shape of red blood cells to look for spherocytes. It is also important to rule out autoimmune hemolytic anemia. This can be done with a direct antiglobulin test.
How is Spherocytosis treated?
The treatment for hereditary spherocytosis is individualized and may require transfusions, folic acid administration, full or partial splenectomy, and/or cholecystectomy. Complications of spherocytosis may include megaloblastic crisis, low folic acid levels, splenomegaly, and/or gallbladder problems.
How do you treat spherocytosis naturally?
Vitamins: Folic acid, a B vitamin, is usually recommended for everyone with HS. It helps you make new red blood cells. A daily dose of oral folic acid is the main treatment option for young children and people with mild cases of HS. Transfusion: You may need red blood cell transfusions if you have severe anemia.