Hereditary spherocytosis (HS) is a genetic disorder that affects the red blood cells (RBCs) causing them to become spherical in shape instead of their normal discoid shape. This change in shape makes the RBCs more prone to rupture and leads to a condition called hemolytic anaemia. In this blog post, we will dive deep into the causes, symptoms, diagnosis, and treatment of HS.
Causes of Hereditary Spherocytosis:
Hereditary spherocytosis is an inherited disorder that is caused by mutations in one or more of the genes that produce the proteins responsible for maintaining the shape and stability of RBCs. The most commonly affected genes are ANK1, SLC4A1, and SPTB. These genes encode proteins such as ankyrin, band 3, and spectrin, which play a vital role in maintaining the structural integrity of RBCs.
The mutations in these genes result in the production of abnormal proteins that cause the RBCs to lose their flexibility and become spherical. As a result, they are unable to pass through the small blood vessels in the body and are prone to rupture.
Symptoms of Hereditary Spherocytosis:
The symptoms of Hereditary spherocytosis can vary depending on the severity of the condition. Some people with HS may have no symptoms at all, while others may experience severe symptoms that require treatment. The most common symptoms of HS include:
- Jaundice: A yellowing of the skin and eyes due to the buildup of bilirubin, a waste product of RBCs that are broken down in the liver.
- Anaemia: A condition in which the body does not have enough RBCs to transport oxygen to the tissues, resulting in fatigue, weakness, and shortness of breath.
- Enlarged spleen: The spleen is an organ that filters and removes damaged RBCs from the bloodstream. In HS, the spleen becomes enlarged as it works to remove the abnormal RBCs from circulation.
- Gallstones: The buildup of bilirubin in the bile can lead to the formation of gallstones, which can cause pain and other digestive symptoms.
Diagnosis of Hereditary Spherocytosis:
Diagnosing Hereditary spherocytosis be challenging because the symptoms can be similar to those of other types of anaemia. The first step in diagnosing HS is to perform a complete blood count (CBC) to look for evidence of anaemia and abnormal RBCs.
If the CBC suggests HS, additional tests may be done to confirm the diagnosis. These tests may include a blood smear, which can show the spherical shape of the RBCs, and an osmotic fragility test, which measures how easily the RBCs rupture when exposed to a solution with a high salt concentration.
In some cases, genetic testing may be done to identify the specific mutation that is causing HS.
Treatment of Hereditary Spherocytosis:
The treatment of HS depends on the severity of the condition and the presence of symptoms. Mild cases of Hereditary spherocytosis may not require treatment, while more severe cases may require medication or surgery.
Folic acid supplements may be prescribed to help the body produce new RBCs and prevent anaemia. Blood transfusions may also be given to replace the damaged RBCs.
In some cases, a splenectomy (removal of the spleen) may be necessary to manage the symptoms of HS. Removing the spleen can reduce the destruction of RBCs and improve the symptoms of anaemia and jaundice.
Conclusion:
Hereditary spherocytosis is a genetic disorder that affects the shape and stability of red blood cells. The condition can cause a range of symptoms, from mild anaemia to severe hemolytic anaemia.
