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paroxysmal nocturnal hemoglobinuria

Paroxysmal nocturnal hemoglobinuria (hemoglobinuria paroxysmal nocturia): 

What is paroxysmal nocturnal hemoglobinuria?

It is a rare blood disease caused by the immune system attacking red blood cells in the body. It can occur at any age and the condition affects everyone differently. 

Some people have only minor problems, others have more serious ones, and the greater risk is the formation of blood clots.

paroxysmal nocturnal hemoglobinuria

What is the cause of paroxysmal nocturnal hemoglobinuria?


They are caused by mutations that lead to a change in the PIGA gene, which leads to the body forming abnormal red blood cells. 

These cells do not contain proteins that protect them from the immune system, so the body breaks them down.

What are the symptoms of paroxysmal nocturnal hemoglobinuria?

Most symptoms are caused by:

  • Red blood cells are broken down.
  • Low red blood cell count (which can cause anemia).
  • blood clots;

The breakdown of red blood cells and anemia results in feeling tired and weak, headache, shortness of breath, irregular heartbeat, abdominal and back pain, easy bruising or bleeding, and difficulty controlling bleeding even from very minor cuts.

What is the treatment for paroxysmal nocturnal hemoglobinuria?

The appropriate treatment depends on the severity of the symptoms. Some patients have few or no symptoms and do not need treatment other than folic acid and sometimes iron supplements to increase red blood cell production. 

The person with this disease should also avoid medications that increase the risk of developing blood clots, such as oral contraceptive pills. pregnancy.

Treatment also includes a monomer that binds to blood proteins that can destroy red blood cells and a bone marrow transplant.

How is paroxysmal nocturnal hemoglobinuria diagnosed?

The doctor orders a variety of blood tests, but the most important of them is a flow cytometry test. 

This laboratory technique allows doctors to count blood cells in the sample, and other signs that indicate this condition appear, such as anemia, hemolysis within the blood vessels, and urine containing hemosiderin constantly.

What does the name paroxysmal nocturnal hemoglobinuria mean?

  • Hemoglobinuria means the presence of hemoglobin in the urine.
  • Paroxysmal means are sudden and irregular.
  • Nocturnal means at night.

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