It is estimated that around 1 to 1.5 people per million are diagnosed with Nocturnal Hemoglobinuria (PNH) every year.1 Whilst most people are unaware of this disease it can be a serious and potentially life threatening problem that requires special treatment and diagnosis. To see the warning signs of nocturnal hemoglobinuria and treatments start an online search today.

Abdominal Pain

What is Nocturnal Hemoglobinuria?

PNH is a rare blood disorder that affects the red blood cells. Normally, red blood cells have a protective coating that prevents the immune system from attacking them. In people with PNH, this coating is missing, which makes the red blood cells vulnerable to attack. This results in hemolysis, or the breakdown of red blood cells, which leads to anemia, blood clots, and other serious complications.

What Causes Nocturnal Hemoglobinuria?

Nocturnal Hemoglobinuria is caused by a genetic mutation that affects the blood cells. This mutation leads to the destruction of red blood cells by the body’s immune system, which can cause a range of symptoms such as fatigue, shortness of breath, and dark urine. The mutation occurs in a gene called PIG-A, which is responsible for producing a protein that helps anchor other proteins to the surface of blood cells. Without this protein, the immune system mistakes the blood cells as foreign invaders and attacks them. While the genetic mutation that causes PNH is not inherited, it is acquired spontaneously during a person’s lifetime.

Who Are Commonly Diagnosed?

It is most commonly diagnosed in people between the ages of 30 and 40, and affects both men and women equally. 2 People with certain medical conditions, such as aplastic anemia or other bone marrow disorders, are at an increased risk of developing PNH.

Early Warning Signs of Nocturnal Hemoglobinuria

It is important to know the signs and symptoms of this condition so that it can be detected early and treated effectively. Some signs to look out for include:

  • Dark urine: One of the most common signs of nocturnal hemoglobinuria is dark urine, which is caused by the presence of hemoglobin in the urine.
  • Fatigue: Nocturnal hemoglobinuria can cause fatigue and weakness, which can be severe and affect a person’s ability to perform daily activities.
  • Shortness of breath: This condition can also cause shortness of breath and difficulty breathing, especially during physical activity.
  • Abdominal pain: Some people with nocturnal hemoglobinuria may experience abdominal pain and swelling, which can be a sign of liver or spleen enlargement.
  • Headaches: Headaches and migraines may also be a symptom of this condition, as it can cause increased pressure in the brain.

Some other early warning signs to watch out for:

  • Fatigue
  • Muscle weakness
  • Difficulty swallowing
  • Jaundice (yellowing of the skin and eyes)
  • Blood clots
  • Bone pain

It’s important to note that these symptoms may not all occur at once and may vary from person to person. If you’re experiencing any of these symptoms, it’s important to speak with your doctor as soon as possible to receive a proper diagnosis and treatment plan.

Treatment Options for Nocturnal Hemoglobinuria

The choice of treatment depends on the severity of the disease and the individual’s overall health. Some common treatment options for PNH include:

  • Blood Transfusions: Blood transfusions can be used to treat anemia caused by PNH. This treatment involves receiving blood from a donor to replace the red blood cells that have been destroyed by PNH. 3
  • Medications: Medications called complement inhibitors can be used to prevent red blood cells from being destroyed. Eculizumab is a commonly used complement inhibitor that has been shown to be effective in treating PNH.
  • Bone Marrow Transplant: A bone marrow transplant is a more aggressive treatment option that involves replacing the patient’s bone marrow with healthy bone marrow from a donor. This treatment can be curative for PNH, but it comes with significant risks and is not always an option for all patients.
  • Supportive Care: Supportive care involves managing the symptoms of PNH to improve the patient’s quality of life. This can include measures such as pain management, physical therapy, and nutritional support.

Can Nocturnal Hemoglobinuria Be Hereditary?

Yes, PNH can be hereditary. In most cases, PNH occurs due to a genetic mutation that leads to the abnormal production of red blood cells. This mutation is usually acquired spontaneously and is not inherited from a parent. However, in rare cases, PNH can be inherited from a parent who also has the condition. The inherited form of PNH is caused by a mutation in a gene called PIGA, which is responsible for producing a protein that is essential for the normal function of red blood cells.

If one parent has the mutated PIGA gene, there is a 50% chance that their children will inherit the gene and develop PNH. 4 However, it is important to note that not all individuals with the mutated PIGA gene will develop PNH, as other factors can also contribute to the development of the condition.

Seek Medical Attention Immediately

If you experience any of the symptoms mentioned earlier, it is crucial to seek medical attention immediately. It is recommended that individuals with a family history of PNH or those who have been diagnosed with bone marrow disorders undergo regular medical checkups to monitor their health and detect any signs of PNH early. To see the early warning signs of nocturnal hemoglobinuria and treatment start an online search.