Paroxysmal Nocturnal Hemoglobinuria: A Rare Blood Disorder You Should Know About

Paroxysmaln octurnal hemoglobinuria (PNH) is a rare, acquired blood disorder that affects the red blood cells, platelets, and bone marrow. It's characterized by the destruction of red blood cells (hemolysis), blood clots (thrombosis), and impaired bone marrow function, leading to a variety of symptoms and complications.

**What causes PNH?**

PNH is caused by a mutation in a gene called **PIGA** or **PIGT**. This mutation leads to a deficiency in a protein called glycosylphosphatidylinositol (GPI) on the surface of red blood cells and other blood cells. GPI normally acts as a shield, protecting these cells from the complement system, a part of the immune system that helps fight infection.

Without GPI, the complement system mistakenly attacks and destroys the blood cells, leading to hemolysis and other complications.

**Symptoms of PNH**

PNH symptoms can vary depending on the severity of the disease and the individual. Some common symptoms include:

* **Fatigue and weakness**

* **Pale skin and shortness of breath**

* **Dark-colored urine (due to hemoglobin in the urine)**

* **Abdominal pain**

* **Blood clots (thrombosis)**

* **Erectile dysfunction**

**Diagnosis and Treatment of PNH**

PNH is diagnosed with a blood test called a **flow cytometry test**. This test can detect the absence of GPI on red blood cells.

There is no cure for PNH, but there are treatments that can help manage the symptoms and prevent complications. These treatments include:

* **Eculizumab**: This medication blocks the complement system and prevents it from attacking blood cells.

* **Folic acid**: This vitamin helps the bone marrow produce new red blood cells.

* **Blood transfusions**: These may be necessary in severe cases of hemolysis.

* **Bone marrow transplant**: This is a curative treatment, but it is a risky procedure and not everyone is eligible.

**Living with PNH**

PNH can be a challenging condition, but there are things you can do to manage it and live a full and active life. These include:

* **Working with your doctor to develop a treatment plan**

* **Taking your medications as prescribed**

* **Eating a healthy diet and getting regular exercise**

* **Avoiding triggers that can worsen your symptoms, such as infections**

* **Joining a support group for people with PNH**

**Raising awareness about PNH**

PNH is a rare disease, so many people are unaware of it. Raising awareness about PNH can help people get diagnosed and treated sooner. You can help raise awareness by:

* **Sharing your story with others**

* **Supporting organizations that are working to find a cure for PNH**

* **Wearing a PNH awareness bracelet**

**In conclusion,** PNH is a serious but manageable condition. With proper treatment and support, people with PNH can live long and healthy lives.

**Additional Resources:**

* The National Organization for Rare Disorders:

https://www.rarediseaseadvisor.com/junction-hub-pages/paroxysmal-nocturnal-hemoglobinuria/

* The PNH Foundation:

 https://www.aamds.org/patient/pnh-foundation

I hope this blog post has helped you learn more about PNH. If you have any questions, please feel free to leave a comment below.

**Disclaimer:** I am not a medical professional and this blog post is not intended to provide medical advice. Please consult with your doctor for any questions or concerns you may have about PNH.

Source 😀 bard.google.com