About Hereditary Spherocytosis

What is Hereditary Spherocytosis?

Hereditary spherocytosis is an inherited disorder of the red blood cells. It is caused by a defect in the cell membrane, which causes the red blood cells to become round and rigid instead of their normal disc shape. This makes it difficult for the cells to move through the bloodstream, resulting in anemia, jaundice, and other symptoms. Treatment typically involves removing some of the red blood cells through a procedure called a splenectomy.

What are the symptoms of Hereditary Spherocytosis?

The most common symptoms of Hereditary Spherocytosis include:

-Jaundice (yellowing of the skin and eyes)
-Anemia (low red blood cell count)
-Fatigue
-Abdominal pain
-Dark urine
-Enlarged spleen
-Splenomegaly (enlargement of the spleen)
-Gallstones

What are the causes of Hereditary Spherocytosis?

Hereditary spherocytosis is caused by mutations in genes that are responsible for the production of proteins that make up the red blood cell membrane. These mutations can affect the structure of the red blood cell membrane, causing it to become more rigid and spherical in shape. This can lead to decreased flexibility and increased fragility of the red blood cells, resulting in their premature destruction in the spleen.

What are the treatments for Hereditary Spherocytosis?

1. Folic acid supplementation: Folic acid is a B vitamin that helps the body produce healthy red blood cells. Supplementation can help reduce the number of spherocytes in the blood.

2. Splenectomy: This is a surgical procedure to remove the spleen, which is the organ responsible for removing spherocytes from the bloodstream.

3. Blood transfusions: In some cases, a blood transfusion may be necessary to replace the lost red blood cells.

4. Iron supplementation: Iron is an important mineral for red blood cell production. Iron supplementation can help reduce the symptoms of anemia caused by spherocytosis.

5. Antibiotics: Antibiotics may be prescribed to prevent or treat infections that can occur due to a weakened immune system caused by spherocytosis.

What are the risk factors for Hereditary Spherocytosis?

1. Family history of Hereditary Spherocytosis
2. Being of Northern European descent
3. Having a mutation in the genes that control red blood cell production
4. Having a history of jaundice
5. Having a history of anemia
6. Having a history of gallstones
7. Having a history of enlarged spleen
8. Having a history of recurrent infections

Is there a cure/medications for Hereditary Spherocytosis?

Yes, there is a cure for Hereditary Spherocytosis. The most common treatment is a procedure called a splenectomy, which involves surgically removing the spleen. This procedure can help reduce the number of red blood cells that are destroyed, and can improve symptoms. In some cases, medications such as folic acid and iron supplements may be prescribed to help replenish red blood cells.