Paroxysmal Nocturnal Hemoglobinuria





Paroxysmal nocturnal hemoglobinuria (also referred to as PNH or Marchiafava-Micheli anemia) is a genetic hematologic disorder that is typified by the premature destruction and impaired production of the different blood cells. This condition affects three different blood components: the red blood cells (erythrocytes), the white blood cells (leukocytes), and the platelets (thrombocytes). It can probably be associated with other blood disorders such as acute myelogenous leukemia or aplastic anemia.

This condition can affect both men and women equally, and can arise at any age. It is more often diagnosed, though, during the period of young adulthood.

Paroxysmal nocturnalhemoglobinuria is estimated to be detected in 1-5 individuals out of a million people. These figures make PNH a very rare disease.



Patients who have been diagnosed with paroxysmal nocturnal hemoglobinuria are missing a gene named the PIG-A gene. This missing gene is responsible for allowing a substance identified as glycosyl-phosphatidyl-inositol (GPI) which, in turn, is also responsible for making proteins attach to the blood cells. Without the PIG-A gene, the necessary proteins that will protect the blood cells are missing, thus they get to disintegrate much earlier than it should be. The dead blood cells then releases hemoglobin into the blood stream, and is then eventually passed out into the urine.


Signs and Symptoms

A great variety of symptoms are usually associated with paroxysmal nocturnal hemoglobinuria; and this is the reason why diagnosing this condition may take a while. The most noticeable symptoms of this disease, however, include: headache, abdominal and back pain, excessive weakness and fatigue, and the incidence of recurrent (usually systemic) infections. The distinctive symptom of spotting hemoglobonuria (bright red blood in the urine) in the morning happens to less than half of the diagnosed patients.

The episodes of having blood in the urine are brought on by alcohol use, stress or exercise, infections, and use of certain medications.

The early death of red blood cells in this disease results to the possibility of hemolytic anemia. This then is indicated by signs and symptoms such as weakness, pale skin (pallor), fatigue, an increased heart rate and/or palpitations, shortness of breath, and difficulty in breathing.

Blood clots (thrombosis), especially in the deep veins, may be manifested by some people who have this disease.



The treatment of paroxysmal nocturnal hemoglobinuria can vary depending on the manifested symptoms and the degree of acuteness of these symptoms. For most cases, this condition can be controlled effectively simply by addressing the symptoms as they come about. Since the most apparent signs and symptoms are concerned with anemia, the treatment regimen for such is effective to lessen the breakdown of the blood cells and lessen the risk of the formation of blood clots. Some cases, however, may require blood transfusions in order to pull up the level of the patient’s blood cells.

Part of the drug therapy can be the use of steroids to suppress the immune system to prevent it from attacking its own blood cells. If you are undergo this therapy, your doctor might also put you up for extra vaccinations to prevent you from getting infections that may weaken your body further. Supplementations for folate and iron are also used for supportive measures.

Of recent date, a drug called eculizumab has been utilized to manage PNH. It is said that this drug is capable of reducing symptoms and the need for blood transfusions.


Disability Tax Credits for Paroxysmal Nocturnal Hemoglobinuria

A person with paroxysmal nocturnal hemoglobinuria usually will have difficulty in performing his activities of daily living. If you know someone who is diagnosed with this blood disorder, you can employ the services of HandyTax to aid you in filing for a disability tax certificate.