PNH Blood Disorder: A Comprehensive Guide
What is PNH?
PNH (paroxysmal nocturnal hemoglobinuria) is a rare blood disorder that affects the red blood cells, white blood cells, and platelets. It is characterized by the destruction of red blood cells, leading to anemia. PNH can also cause blood clots, infections, and other serious complications.
What Causes PNH?
PNH is caused by a mutation in the PIG-A gene. This gene is responsible for producing a protein that is essential for the proper function of red blood cells. When the PIG-A gene is mutated, it leads to the production of defective red blood cells that are susceptible to destruction.
Who is at Risk for PNH?
PNH is most common in people between the ages of 20 and 50. It is more common in men than in women. People who have a family history of PNH are at an increased risk of developing the disorder.
What are the Symptoms of PNH?
The symptoms of PNH can vary depending on the severity of the disorder. Some people with PNH may only have mild symptoms, while others may have more severe symptoms that can be life-threatening.
Common symptoms of PNH include:
- Anemia
- Fatigue
- Weakness
- Shortness of breath
- Dark urine
- Blood clots
- Infections
How is PNH Diagnosed?
PNH is diagnosed with a blood test. The blood test will look for the presence of a protein called CD59 on the surface of red blood cells. CD59 is a protein that protects red blood cells from destruction. In people with PNH, the CD59 protein is missing or defective.
How is PNH Treated?
There is no cure for PNH, but there are treatments that can help to manage the symptoms of the disorder. Treatment options for PNH include:
- Blood transfusions
- Iron supplements
- Clot-preventing medications
- Antibiotics
- Eculizumab (Soliris)
Eculizumab is a medication that is used to treat PNH. Eculizumab is a monoclonal antibody that blocks the action of a protein that is involved in the destruction of red blood cells.
What is the Prognosis for PNH?
The prognosis for PNH varies depending on the severity of the disorder and the patient's response to treatment. With proper treatment, most people with PNH can live a full and active life.
How Can I Prevent PNH?
There is no way to prevent PNH. However, people who have a family history of PNH should be aware of the symptoms of the disorder and should see a doctor if they experience any of these symptoms.
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