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(PNH)

PAROXYSMAL NOCTURNAL HEMOGLOBINURIA

PNH is a rare and serious blood disease that causes red blood cells to break apart called “hemolysis”. It happens because blood cells are missing a protein that protects them from body’s immune system. When red blood cells break apart, the hemoglobin inside them is released.
Hemoglobin is the red part of red blood cells. Its job is to carry oxygen around body. The release of hemoglobin causes most PNH symptoms. Hemolysis can put a patient at risk for serious health problems.
A rare disease, the worldwide prevalence of PNH is estimated in the range of 1–5 cases per million, regardless of ethnicity. The disease can affect people of any age. It may be associated with aplastic anemia, Myelodysplastic syndromes, or acute myelogenous leukemia

Where does the name come from?

Paroxysmal – means “sudden and irregular”
Nocturnal – means “at night”
Hemoglobinuria – means “hemoglobin in urine”; hemoglobin is the red part of red blood cells – it makes your urine look dark
So, “paroxysmal nocturnal Hemoglobinuria” means sudden, irregular episodes of passing dark colored urine, especially at night or in the early morning. It is important to note that many people with PNH do not have dark urine.

PNH CAUSES

PNH occurs because of a change (mutation) in the PIG-A gene of a single stem cell in the bone marrow. Here are the steps that lead to PNH:
The abnormal stem cell makes copies of or “clones” itself. This leads to a whole population of stem cells that have mutant PIG-A.
The abnormal stem cells turn into mature red blood cells that have mutant PIG-A. These are called PNH red blood cells.
The PNH red blood cells lack the shield of proteins that protect normal red blood cells from the complement system. So they may be attacked and destroyed by the complement system proteins. Many healthy people have a small number of stem cells with mutant PIG-A. But in people with PNH, these stem cells grow fast and make lots of mature PNH red blood cells.
A person’s bone marrow may be weakened because they have Aplastic anemia or another bone marrow failure disease. Weakened bone marrow may also result from a mild bone marrow disease that was never diagnosed.

What are the symptoms of PNH?

Hemolysis – the breaking apart or destruction of red blood cells
Thrombosis – blood clots
Low blood cell count – not having enough of a type of blood cell
PNH DIAGNOSIS
How does my doctor know I have PNH?
PNH is a rare disease. Many doctors have never seen a case of it. So people with PNH may have symptoms for several years before they get a correct diagnosis.
Test to diagnose PNH is flow cytometry test.
This test is to detect if any proteins were missing from red blood cells. It can also be done on granulocytes.

PNH: TREATMENTS

PNH is considered chronic. That means it lasts for a long time. The only known cure is a bone marrow transplant. Other treatments are designed to ease symptoms and prevent problems
Blood Transfusions for anemia
Folate and Folic Acid: Folate is a B-vitamin that is found in fresh or lightly cooked green vegetables. It helps the bone marrow to make normal blood cells.
Iron as needed.
Prednisone is a steroid that can decrease hemolysis caused by PNH. It may make the complement system less active. It may also increase counts of white blood cells and platelets in some people.
Prednisone does not stop all hemolysis, however. And it does have a lot of side effects, especially if taken for a long time.
Soliris Eculizumab: (Soliris) is the only drug approved to treat PNH. It works by making complement system less active. ITS GIVEN IV Bone Marrow Transplantation: If other treatments have not worked to stop hemolysis, clotting, or bone marrow failure, then a bone marrow transplant may be the next step.
Bone marrow transplantation is the only way to cure PNH. But it carries many risks, including death.

WHAT OTHER TESTS?

  • CBC (complete blood count) Ferritin test to check iron levels
  • Bone marrow (through a bone marrow biopsy) bilirubin LDH (lactate dehydrogenase)
  • Retic