When paroxysmal nocturnal hemoglobinuria (PNH) hematopoietic stem cell clones carrying PIGA gene mutations gain growth advantage in vivo and further differentiate, a large number of red blood cells are produced, which are susceptible to intravascular hemolysis due to the lack of GPI-anchored proteins such as CD55 and CD59. This not only leads to typical symptoms such as anemia and jaundice, but can also trigger thrombosis, which is a major cause of morbidity and mortality in patients with PNH.
In addition, overactivation of the complement system also plays a key role in the pathogenesis of PNH. The complement system is a group of proteins that play an important role in the immune response, and they normally help clear out infected and damaged cells. However, in PNH, due to the deficiency of CD55 and CD59, the complement system may be overactivated, producing anaphylatoxins such as C5A, which can further exacerbate the destruction and hemolysis of red blood cells.
Therefore, for patients with PNH, control of hemolysis and prevention of thrombosis are key. Existing methods include drugs (e.g., glucocorticoids, immunosuppressants, etc.) and blood transfusions, but these usually only relieve symptoms and do not relieve disease. Future research needs to deeply understand the pathogenesis of PNH and find more specific methods to improve the quality of life and survival of patients.
All sectors of society should also pay more attention to the quality of life of PNH patients and provide necessary psychological support and social care. Although PNH is rare, the effects on patients are significant, including limited exercise ability and decreased social skills. Therefore, we should work together to provide better medical care and support to patients with PNH.