Paroxysmal nocturnal hemolobinurea (PNH) is a rare disease where red blood cells break down earlier than normal due to missing a gene called PIG-A that helps proteins stick to cells and protect them. Without this, red blood cells leak hemoglobin into the blood and urine, especially at night or in the morning. It has symptoms like abdominal pain, dark urine, and easy bruising. Tests like blood counts and urine analysis are used to diagnose. Treatment includes drugs to suppress the immune system and prevent cell breakdown, blood transfusions, iron/folic acid, and possibly bone marrow transplant. Complications can include blood clots, leukemia, or death.

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Paroxysmal nocturnal hemolobinurea (PNH)
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Paroxysmal nocturnal hemolobinurea is a rare disease in which red blood cells
break down earlier than normal.
Causes
Persons 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 lead to aplastic anemia,
myelodysplastic syndrome, or acute myelogenous leukemia.
Risk factors, except for prior aplastic anemia, are not known.
Symptoms
 Abdominal pain
 Back pain
 Blood clots -- may form in some people
 Dark urine -- comes and goes
 Easy bruising or bleeding
 Headache
 Shortness of breath
Exams and Tests
Red and white blood cell counts and platelet counts may be low.

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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 may include:
 Complete blood count (CBC)
 Coombs' test
 Flow cytometry to measure certain proteins
 Ham's (acid hemolysin) test
 Serum hemoglobin and haptoglobin
 Sucrose hemolysis test
 Urinalysis
 Urine hemosiderin
Treatment
Steroids or other drugs that suppress the immune system may help slow the break
down of red blood cells. Blood transfusions may be needed. Supplemental iron
and folic acid are provided. Blood thinners may also be needed to prevent clot
formation.
Soliris (eculizumab) is a drug used to treat PNH. It blocks the breakdown of red
blood cells.
Bone marrow transplantation can cure this disease.
All patients with PNH should receive vaccinations against certain types of
bacteria to prevent infection. Ask your doctor which ones are right for you.
Outlook (Prognosis)
The outcome varies. Most people survive greater 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
 Acute myelogenous leukemia

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 Aplastic anemia
 Blood clots
 Death
 Hemolytic anemia
 Iron deficiency anemia
 Myelodysplasia