Paroxysmal Nocturnal Hemoglobinuria

PNH (paroxysmal nocturnal hemoglobinuria) is an extremely rare blood disease that affects between 8,000-10,000 individuals in Western Europe and North America. PNH was named after the dark urine individuals with PNH acquire. This article details the signs, symptoms, and complications of the condition.

The disease causes a mutation in the red blood cells, proteins in the body, which are designed to kill infectious causing bacteria break down these abnormal red blood cells. This leads to the signs, symptoms, and complications of PNH.

The signs and symptoms of PNH tend to be vague. Among the signs is severe anemia requiring blood transfusions. Difficulty breathing, abdominal pain, dark urine, erectile dysfunction, and difficulty swallowing are other symptoms of the condition. Individuals with PNH may also experience fatigue that can be disabling.

As I mentioned earlier, the signs and symptoms for the condition tend to be vague, so it is essential that you discuss all your symptoms with your doctor. You may want to make a list of the symptoms you are experiencing to show your doctor at your appointment.

You doctor may try to rule out other, more common diseases before he or she performs any diagnostic tests for PNH. The good news is, however, that there are several laboratory tests that can determine if you have the condition.

Your physician may order a number of tests in order to determine if you have PNH. These include a complete blood count, which is done by a simple blood test, Ham's test, urinalysis where a sample of your urine is analyzed, sucrose hemolysis test, or a serum hemoglobin test.

While the tests mentioned above may provide your physician more information about your condition, a flow cytometry test is the standard test used to determine if a patient has PNH. This test is a procedure whereby your blood cells as well as their components are sorted. Flow cytometry tests can determine the exact number of PNH (abnormal red blood cells) in your body.

Therapies that manage the symptoms of PNH include steroid hormones, blood transfusions, anticoagulants, androgen hormones, and supplement therapy such as the use of iron and folic acid.

Bone marrow transplants and stem cell transplants are the only two known possible cures for the condition because they replace unhealthy stem cells with healthy ones.

A new drug, Soliris, was also approved recently for the treatment of PNH. Please see my article about Soliris in order to discover how this medication can help individuals with PNH.

PNH is a rare blood disease that causes debilitating symptoms for individuals affected with the condition. If you suspect you have this condition, discuss your symptoms with your doctor.