BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuParoxysmal nocturnal hemoglobinuria (PNH)PNHParoxysmal nocturnal hemoglobinuria is a rare disease in which red blood cells break down earlier than normal. Causes People with this disease have blood cells that are missing a gene called PIG-A. This gene allows a substance called glycosyl-phosphatidylinositol (GPI) to help certain proteins stick to cells.Without PIG-A, important proteins cannot connect to the cell surface and protect the cell from substances in the blood called complement. As a result, red blood cells break down too early. The red cells leak hemoglobin into the blood, which can pass into the urine. This can happen at any time, but is more likely to occur during the night or early morning.The disease can affect people of any age. It may be associated with aplastic anemia, myelodysplastic syndrome, or acute myelogenous leukemia.Aplastic anemiaAplastic anemia is a condition in which the bone marrow does not make enough blood cells. Bone marrow is the soft, tissue in the center of bones tha...ImageRead Article Now Book Mark Article Acute myelogenous leukemiaAcute myeloid leukemia (AML) is cancer that starts inside bone marrow. This is the soft tissue in the center of bones that helps form all blood cell...ImageRead Article Now Book Mark Article Risk factors, except for prior aplastic anemia, are not known. Symptoms Symptoms may include:Abdominal pain Abdominal painAbdominal pain is pain that you feel anywhere between your chest and groin. This is often referred to as the stomach region or belly.ImageRead Article Now Book Mark Article Back pain Blood clots, may form in some people Blood clotsBlood clots are clumps that occur when blood hardens from a liquid to a solid. A blood clot that forms inside one of your veins or arteries is calle...ImageRead Article Now Book Mark Article Dark urine, comes and goes Easy bruising or bleeding Headache HeadacheA headache is pain or discomfort in the head, scalp, or neck. Serious causes of headaches are rare. Most people with headaches can feel much better...ImageRead Article Now Book Mark Article Shortness of breath Shortness of breathBreathing difficulty may involve:Difficult breathing Uncomfortable breathingFeeling like you are not getting enough airImageRead Article Now Book Mark Article Weakness, fatigue Pallor Chest pain Difficulty swallowing Exams and Tests Red and white blood cell counts and platelet counts may be low.Red or brown urine signals the breakdown of red blood cells and that hemoglobin is being released into the body's circulation and eventually into the urine.HemoglobinHemoglobin is a protein in red blood cells that carries oxygen. The hemoglobin test measures how much hemoglobin is in your blood.ImageRead Article Now Book Mark Article Tests that may be done to diagnose this condition include:Complete blood count (CBC) Complete blood count (CBC)A complete blood count (CBC) test measures the following:The number of red blood cells (RBC count)The number of white blood cells (WBC count)The tota...ImageRead Article Now Book Mark Article Coombs test Coombs testThe Coombs test looks for antibodies that may stick to your red blood cells and cause red blood cells to die too early.Read Article Now Book Mark Article Flow cytometry to measure certain proteins Ham (acid hemolysin) test Ham (acid hemolysin) testThe Ham test is a blood test to diagnose paroxysmal nocturnal hemoglobinuria (PNH). This rare condition causes red blood cells to die before they sh...Read Article Now Book Mark Article Serum hemoglobin and haptoglobin Serum hemoglobinSerum free hemoglobin is a blood test that measures the level of free hemoglobin in the liquid part of the blood (the serum). Free hemoglobin is the...ImageRead Article Now Book Mark Article Sucrose hemolysis test Sucrose hemolysis testThe sugar-water hemolysis test is a blood test to detect fragile red blood cells. It does this by testing how well they withstand swelling in a suga...Read Article Now Book Mark Article Urinalysis UrinalysisUrinalysis is the physical, chemical, and microscopic examination of urine. It involves a number of tests to detect and measure various compounds th...ImageRead Article Now Book Mark Article Urine hemosiderin, urobilinogen, hemoglobin LDH test LDH testThe lactate dehydrogenase (LDH) isoenzyme test checks how much of the different types of LDH are in the blood.ImageRead Article Now Book Mark Article Reticulocyte countReticulocyte countReticulocytes are slightly immature red blood cells. A reticulocyte count is a blood test that measures the amount of these cells in the blood....ImageRead Article Now Book Mark Article Treatment Steroids or other medicines that suppress the immune system may help slow the breakdown of red blood cells. Blood transfusions may be needed. Supplemental iron and folic acid are provided. Blood thinners may also be needed to prevent clots from forming.Soliris (eculizumab) is a drug used to treat PNH. It blocks the breakdown of red blood cells.Bone marrow transplantation can cure this disease. It may also stop the risk of developing PNH in people with aplastic anemia.All people with PNH should receive vaccinations against certain types of bacteria to prevent infection. Ask your health care provider which ones are right for you. Outlook (Prognosis) The outcome varies. Most people survive for more than 10 years after their diagnosis. Death can result from complications such as blood clot formation (thrombosis) or bleeding.In rare cases, the abnormal cells may decrease over time. Possible Complications Complications may include:Acute myelogenous leukemia Aplastic anemia Blood clots Death Hemolytic anemia Iron deficiency anemia Iron deficiency anemiaAnemia is a condition in which the body does not have enough healthy red blood cells. Red blood cells provide oxygen to body tissues. There are man...ImageRead Article Now Book Mark Article Myelodysplasia When to Contact a Medical Professional Call your provider if you find blood in your urine, if symptoms worsen or do not improve with treatment, or if new symptoms develop. Prevention There is no known way to prevent this disorder.Open ReferencesReferencesBrodsky RA. Paroxysmal nocturnal hemoglobinuria. In: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Basic Principles and Practice. 7th ed. Philadelphia, PA: Elsevier; 2018:chap 31.Michel M. Autoimmune and intravascular hemolytic anemias. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 151.AllVideoImagesTogBlood cells - illustration Blood is comprised of red blood cells, platelets, and various white blood cells.Blood cellsillustrationBlood cells - illustration Blood is comprised of red blood cells, platelets, and various white blood cells.Blood cellsillustration Tests for Paroxysmal nocturnal hemoglobinuria (PNH) Sugar-water hemolysis testHam testHemoglobinuria testRelated Information Complement(Medical Test)Hemoglobin(Medical Test)Blood clots(Condition)Hemolytic anemia(Condition)Acute myeloid leukemia - adult(Condition)Iron deficiency anemia(Condition)Anemia(In-Depth) Review Date: 2/6/2020 Reviewed By: Todd Gersten, MD, Hematology/Oncology, Florida Cancer Specialists & Research Institute, Wellington, FL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. 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