Cause 2: Hereditary Spherocytosis
The Inheritance of Fragile Red Blood Cells
Hereditary spherocytosis is a genetic disorder that affects the structure and function of red blood cells, making them more susceptible to breaking apart. This condition is caused by mutations in genes responsible for producing proteins that help maintain the RBC’s structural integrity.
In individuals with hereditary spherocytosis, the affected red blood cells are shaped like spheres, which makes them less flexible and more prone to rupturing as they pass through the spleen. This leads to a higher rate of hemolysis, resulting in anemia and other related symptoms.
The severity of hereditary spherocytosis can vary from mild to severe, with some people experiencing only mild anemia and others requiring regular blood transfusions to manage their condition. Treatment options may include folic acid supplementation, blood transfusions, and in some cases, removal of the spleen (splenectomy) to reduce the rate of RBC destruction. Early diagnosis and appropriate management are crucial in preventing complications and improving the overall prognosis for those affected by this genetic disorder. (2)
