Pnh Disease: An Overview

What is PNH Disease?

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare and life-threatening blood disorder in which red blood cells are prematurely destroyed. This destruction is caused by a deficiency of specific proteins on the surface of red blood cells, which makes them vulnerable to attack by the immune system.

PNH can lead to a variety of complications, including anemia, blood clots, and kidney failure. It is often misdiagnosed, and the average time from onset of symptoms to diagnosis is 5 years.

What Are the Symptoms of PNH Disease?

The symptoms of PNH can vary depending on the severity of the disease. Common symptoms include:

*

Weakness and fatigue

*

Shortness of breath

*

Chest pain

*

Headaches

*

Abdominal pain

*

Nausea and vomiting

*

Skin rash

What Are the Causes of PNH Disease?

PNH is caused by a mutation in the PIG-A gene, which is responsible for making one of the proteins on the surface of red blood cells. This mutation prevents the PIG-A protein from being properly attached to the red blood cells, which makes them vulnerable to attack by the immune system.

The PIG-A gene mutation is thought to be acquired, rather than inherited. It is not clear what triggers the mutation, but it is believed to be related to a type of genetic damage called somatic mutation.