Nocturnal hemoglobinuria is a rare, complex blood disorder in which the immune system damages healthy red blood cells, resulting in anemia and other health problems. The condition is characterized by dark urine observed during late-night or early-morning bathroom visits. Nocturnal hemoglobinuria can cause mild to severe symptoms, which, when detected in time, can help one get a timely diagnosis and appropriate treatment to prevent further complications. Here is what one should know about the condition:
Causes
Nocturnal hemoglobinuria, or paroxysmal (i.e., sudden) nocturnal hemoglobinuria, is a rare blood disorder that develops due to mutations in the PIGA gene, which is responsible for producing proteins that form protective shields for red blood cells. The mutation leads to a deficiency in such proteins, making it easy for the immune system to damage red blood cells by the immune system. The mutation can develop spontaneously in some cases without any family history of the disorder. Additionally, the risk of developing nocturnal hemoglobinuria is higher in those with autoimmune disorders, such as lupus.
Symptoms
Here are a few common symptoms of nocturnal hemoglobinuria:
- Dark urine due to the breakdown of red blood cells in the urine
- Blood clots
- Shortness of breath
- Muscle weakness
- Abdominal pain
- Kidney problems
- Difficulty swallowing
- Back pain
- Headache
One should see a doctor if they notice any such signs. Early diagnosis is crucial here as treatment can prevent the condition from worsening and improve the quality of life of those with nocturnal hemoglobinuria.
Diagnosis
Doctors can ask one to undergo several tests to confirm the existence of this rare disorder. Here are common tests usually recommended:
Urinalysis: As the disorder can lead to blood in urine, a urinalysis may be necessary to see if there are any abnormalities in the sample.
Basic metabolic panel: This test can determine the levels of electrolytes, glucose, and other substances in the blood.
CBC with differential: A complete blood count (CBC) test can help detect any abnormalities in the blood, such as low hemoglobin levels or red blood cell count.
Reticulocyte count: This can confirm the presence of nocturnal hemoglobinuria if there are immature red blood cells in the bloodstream.
If one suspects they have this disorder, they should consult a healthcare professional immediately. Prompt diagnosis can help one take the necessary steps to prevent further health complications.
Treatment options
When diagnosed with nocturnal hemoglobinuria, an allogeneic stem cell transplant is usually the preferred course of treatment. This involves replacing the patient’s bone marrow with healthy stem cells from a donor. The procedure aims to correct the genetic abnormality that causes the condition, and it is the only option when seeking a complete cure. Blood transfusions may not be as effective, but they can provide temporary relief by replenishing red blood cells. However, transfusion does not address the underlying problem. Alternatively, prescription treatment focuses on preventing the breakdown of red blood cells, relieving anemia, and reducing blood clots.
If diagnosed with the disorder, one should ask their doctor about the risks and expected outcomes of all the available treatment options to make an informed decision.
