Understanding Hereditary Spherocytosis: Symptoms and Causes

Hereditary spherocytosis (HS) is a genetic blood disorder that affects the red blood cells (RBCs). People with HS have unusually shaped RBCs that are spherical instead of the usual biconcave shape. This condition affects around 1 in every 5,000 people worldwide and is more common in people of northern European descent.

HS is caused by a mutation in one of the genes that control the production of proteins in the RBC membrane. This results in the RBCs being more fragile and prone to breaking down than normal RBCs. The spleen, which is responsible for removing damaged RBCs from the bloodstream, removes these abnormal RBCs at a faster rate than normal RBCs. This leads to anemia, jaundice, and an enlarged spleen.

Symptoms of Hereditary Spherocytosis

The symptoms of HS can vary from person to person, and some people may not experience any symptoms at all. However, common symptoms of HS include:

1. Jaundice (yellowing of the skin and eyes)
2. Fatigue and weakness
3. Pale skin
4. Enlarged spleen
5. Abdominal pain
6. Gallstones (in some cases)

Some people with HS may also experience episodes of aplastic crisis, which is a sudden drop in the number of RBCs. This can be triggered by an infection or illness and can cause symptoms such as dizziness, shortness of breath, and chest pain.

Diagnosis and Treatment

If you suspect that you or your child may have HS, it is important to see a doctor. Your doctor will likely perform a physical exam, blood tests, and possibly genetic testing to diagnose HS. Treatment for HS typically involves managing the symptoms and complications of the condition.

It is important to avoid activities that may increase the risk of rupturing RBCs, such as contact sports. In severe cases, a splenectomy (surgical removal of the spleen) may be necessary to alleviate symptoms.

Conclusion

Hereditary spherocytosis is a genetic blood disorder that affects the shape and function of RBCs. It can cause a range of symptoms, including anemia, jaundice, and an enlarged spleen. If you suspect that you or your child may have HS, it is important to see a doctor for diagnosis and appropriate management of the condition.