What is PNH?
Paroxysmal Nocturnal Haemoglobinuria (PNH) is a very rare disease of the bone marrow which results in the production of defective red blood cells. The condition is chronic (ongoing) and can lead to life-threatening complications. The condition can have a significant impact on physical, mental and emotional well-being but by working closely with your medical specialist, it is possible to establish a "new normal" and live with the disease.
Definitions:
Paroxysmal Nocturnal - It was originally thought that the red blood cell destruction (haemolysis) which occurs in PNH occurred during an attack (paroxysm) at night. However it is now known that haemolysis occurs constantly.
Haemoglobinuria - The presence of haemoglobin in the urine. This occurs in PNH as a result of the excessive haemolysis which typifies the disease.
Background:
The PNH disease occurs post-fetally (i.e. is not hereditary) and is most commonly diagnosed in patients in their 20's or 30's. PNH affects women and men equally and without any particular ethnic bias. Specific causes of the disease are not well understood.
In people living with PNH, defective red blood cells are produced which lack the CD59 protein. When this protein is absent the complement system, an element of the human immune system, is activated, attacking and destroying these otherwise healthy red blood cells. In some patients, the proportion of defective red blood cells remains very low, in others the proportion can become very significant.
Haemolysis occurs in everyone, as red blood cells are replaced. In people living with PNH, haemolysis occurs more frequently and outside of the circulation, in places such as the spleen and liver. When haemolysis causes haemoglobin to drop below normal levels, haemolytic anaemia results. The rate of hemolysis varies between patients and usually relates to the severity of symptoms experienced. As red blood cells carry oxygen to the body’s organs and muscles, lowered haemoglobin increases the workload of various organs, particularly the heart and lungs, and reduces muscular strength and stamina.
A red blood cell contains, among other substances, proteins and haemoglobin. When the cell is destroyed the haemoglobin that is released into the circulation is converted by the liver into bilirubin that, in excess, is deposited in the eyes and skin, resulting in jaundice. The haemoglobin pigment is also excreted through the kidneys, resulting in haemoglobinuria. Haemaglobinuria can be recognised by red or cola coloured urine.
In PNH white blood cells and platelets also do not function as effectively as normal healthy cells, leaving patients prone to infections. However, most of the symptoms experienced in PNH are due to the destruction of red blood cells.
PLEASE NOTE: This information has been prepared as a guide for patients. It is not to be substituted for medical advice and accuracy is not guaranteed. Please consult with your medical practitioner for further information regarding your personal circumstances.
This information has been prepared by PNHSAA Inc., is copyright protected and is used with their permission.
Definitions:
Paroxysmal Nocturnal - It was originally thought that the red blood cell destruction (haemolysis) which occurs in PNH occurred during an attack (paroxysm) at night. However it is now known that haemolysis occurs constantly.
Haemoglobinuria - The presence of haemoglobin in the urine. This occurs in PNH as a result of the excessive haemolysis which typifies the disease.
Background:
The PNH disease occurs post-fetally (i.e. is not hereditary) and is most commonly diagnosed in patients in their 20's or 30's. PNH affects women and men equally and without any particular ethnic bias. Specific causes of the disease are not well understood.
In people living with PNH, defective red blood cells are produced which lack the CD59 protein. When this protein is absent the complement system, an element of the human immune system, is activated, attacking and destroying these otherwise healthy red blood cells. In some patients, the proportion of defective red blood cells remains very low, in others the proportion can become very significant.
Haemolysis occurs in everyone, as red blood cells are replaced. In people living with PNH, haemolysis occurs more frequently and outside of the circulation, in places such as the spleen and liver. When haemolysis causes haemoglobin to drop below normal levels, haemolytic anaemia results. The rate of hemolysis varies between patients and usually relates to the severity of symptoms experienced. As red blood cells carry oxygen to the body’s organs and muscles, lowered haemoglobin increases the workload of various organs, particularly the heart and lungs, and reduces muscular strength and stamina.
A red blood cell contains, among other substances, proteins and haemoglobin. When the cell is destroyed the haemoglobin that is released into the circulation is converted by the liver into bilirubin that, in excess, is deposited in the eyes and skin, resulting in jaundice. The haemoglobin pigment is also excreted through the kidneys, resulting in haemoglobinuria. Haemaglobinuria can be recognised by red or cola coloured urine.
In PNH white blood cells and platelets also do not function as effectively as normal healthy cells, leaving patients prone to infections. However, most of the symptoms experienced in PNH are due to the destruction of red blood cells.
PLEASE NOTE: This information has been prepared as a guide for patients. It is not to be substituted for medical advice and accuracy is not guaranteed. Please consult with your medical practitioner for further information regarding your personal circumstances.
This information has been prepared by PNHSAA Inc., is copyright protected and is used with their permission.
