Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired, life-threatening disease of the blood characterized by destruction of red blood cells by the complement system, a part of the body's intrinsic immune system. This destructive process is a result of a defect in the formation of surface proteins on the red blood cell, which normally function to inhibit such immune reactions. Since the complement cascade attacks the red blood cells throughout the circulatory system, the hemolysis is considered anintravascular hemolytic anemia. Other key features of the disease, notably the high incidence of thrombosis, are not totally understood.
PNH is the only hemolytic anemia caused by an acquired (rather than inherited) intrinsic defect in the cell membrane (deficiency ofglycophosphatidylinositol leading to absence of protective proteins on the membrane). It may develop on its own ("primary PNH") or in the context of other bone marrow disorders such as aplastic anemia ("secondary PNH"). Only a minority (26%) have the telltale red urine in the morning that originally gave the condition its name.
Allogeneic bone marrow transplantation is the only curative therapy, but has significant rates of both mortality and ongoing morbidity. The monoclonal antibodyeculizumab is effective at reducing the need for blood transfusions and improving quality of life. It, however, does not appear to change the risk of death or blood clots and has an extremely high price, with a single year of treatment costing at least $440,000.
We researched this topic for you and found the following best online resources. They are categorized into basic, advanced, and research level based on the extent of information you need. You will be taken to the respective websites by pressing on the links below.
http://www.bloodjournal.org/content/106/12/3699?sso-checked=true diagnosis and management of paroxysmal nocturnal hemoglobinuria by charles parker, mitsuhiro omine, stephen richards, jun-ichi nishimura, monica bessler, russell ware, peter hillmen, lucio luzzatto, neal young, taroh kinoshita,wendell rosse, gerard socié blood 2005 106:3699-3709; doi:10.1182/blood-2005-04-1717
shrestha gs, poudyal bs, sedain g, mahmud ki, acharya n. cerebral venous thrombosis presenting with intracerebral hemorrhage in a patient with paroxysmal nocturnal hemoglobinuria. indian j crit care med [serial online] 2016 [cited 2016 jul 14];20:117-9. available from: http://www.ijccm.org/text.asp?2016/20/2/117/175948
http://www.hindawi.com/journals/crihem/2012/106182/ radha raghupathy and olga derman, “response of paroxysmal nocturnal hemoglobinuria clone with aplastic anemia to rituximab,” case reports in hematology, vol. 2012, article id 106182, 5 pages, 2012. doi:10.1155/2012/106182