![]() Recurring infections and/or flu-like symptoms.īleeding problems and easy bruising may occur. Mild anemia of gradual onset with fatigue or weakness. Overall, the most common clinical features of PNH include: Clinical features:ĭue to the wide spectrum of symptoms associated with PNH, it is not unusual for months or years to pass before the correct diagnosis is established. The red cell membranes are abnormally sensitive to complement. ![]() The gene responsible for PNH is carried on X-chromosome and both males and females may be affected. The genetic defect responsible for causing PNH has been identified. The majority of PNH-related issues, including the destruction of red blood cells (hemolytic anemia), blood clots (thrombosis), and infection, result from a deficiency of these proteins. Certain GPI-anchored proteins protect red blood cells from destruction, some are involved in blood clotting, and others are involved in fighting infection. Cells harboring PIG-A mutations are deficient in a class of proteins called GPI-anchored proteins. In PNH, the affected stem cell passes the PIG-A mutation to all cells derived from the abnormal stem cell. Stem cells give rise to all the mature blood elements including red blood cells, which carry oxygen to our tissues white blood cells, which fight infection and platelets, which are involved in forming blood clots. PNH occurs when mutations of a gene called PIG-A occur in a bone marrow stem cell. The median survival after diagnosis is 10 years however, some patients can survive for decades with only minor symptoms. Similarly, the risk of developing PNH after treatment for aplastic anemia with immunosuppressive therapy (anti-thymocyte globulin and cyclosporine) is approximately 20-30%. In fact, up to 30% of newly diagnosed cases of PNH evolve from aplastic anemia. PNH is closely related to aplastic anemia. The median age of diagnosis is 35-40 years of age, with occasional cases diagnosed in childhood or adolescence. PNH affects 1-1.5 persons per million of the population and is primarily a disease of younger adults. PNH is the only hemolytic anemia caused by an acquired (rather than inherited) intrinsic defect in the cell membrane (deficiency of glycophosphatidylinositol leading to the absence of protective proteins on the membrane). ![]() The disease is characterized by destruction of red blood cells by the complement system, a part of the body’s innate immune system (hemolytic anemia), blood clots (thrombosis), and impaired bone marrow function (not making enough of the three blood components). ![]() Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired, life-threatening disease of the blood. Thromboses may occur in PNH at unusual sites Introduction: ![]()
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |