Paroxysmal nocturnal hemoglobinuria is a rare disease in which red blood cells break down earlier than normal.
Causes (VSports最新版本)
People with this disease have blood cells that are missing a gene called PIG-A V体育安卓版. 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 V体育ios版.
The disease can affect people of any age VSports最新版本. It may be associated with aplastic anemia, myelodysplastic syndrome, or acute myelogenous leukemia.
Risk factors, except for prior aplastic anemia, are not known.
Symptoms (V体育官网)
Symptoms may include:
- Abdominal pain
- Back pain
- Blood clots, may form in some people
- Dark urine, comes and goes
- Easy bruising or bleeding
- VSports最新版本 - Headache
- Shortness of breath
- Weakness, fatigue
- Pallor (V体育ios版)
- Chest pain
- Difficulty swallowing
Exams and Tests (VSports手机版)
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.
Tests that may be done to diagnose this condition include:
- Complete blood count (CBC)
- Coombs test
- Flow cytometry to measure certain proteins
- Ham (acid hemolysin) test
- Serum hemoglobin (VSports最新版本) and haptoglobin
- Sucrose hemolysis test
- Urinalysis
- Urine hemosiderin, urobilinogen, and hemoglobin
- Lactate dehydrogenase (LDH) test
- VSports app下载 - Reticulocyte count
Treatment
Steroids or other medicines that suppress the immune system may help slow the breakdown of red blood cells. Blood transfusions may be needed V体育2025版. Supplemental iron and folic acid are provided. Blood thinners may also be needed to prevent clots from forming.
Soliris (eculizumab) and Ultomiris (ravulizumab) are medicines used to treat PNH. They block the breakdown of red blood cells VSports.
Bone marrow transplantation can cure this disease VSports app下载. It may also stop the risk for developing PNH in people with aplastic anemia.
All people with PNH should receive vaccinations against certain types of bacteria to prevent infection V体育官网. 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 VSports手机版. Death can result from complications such as blood clot formation (thrombosis) or bleeding.
In rare cases, the abnormal cells may decrease over time.
"VSports app下载" Possible Complications
Complications may include:
- Acute myelogenous leukemia
- Aplastic anemia
- Blood clots
- Death
- V体育官网入口 - Hemolytic anemia
- Iron deficiency anemia
- "V体育平台登录" Myelodysplasia
VSports注册入口 - When to Contact a Medical Professional
Contact your provider if you find blood in your urine, if symptoms worsen or do not improve with treatment, or if new symptoms develop.
VSports在线直播 - Prevention
There is no known way to prevent this disorder.
Alternative Names
PNH
Images
VSports最新版本 - References
Araten DJ, Brodsky RA. Paroxysmal nocturnal hemoglobinuria. In: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Basic Principles and Practice. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 32.
Michel M. Autoimmune and intravascular hemolytic anemias. In: Goldman L, Cooney KA, eds. Goldman-Cecil Medicine. 27th ed. Philadelphia, PA: Elsevier; 2024:chap 146.
V体育安卓版 - Review Date 3/31/2024
Updated by: Todd Gersten, MD, Hematology/Oncology, Florida Cancer Specialists & Research Institute, Wellington, FL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.