Paroxysmal nocturnal hemoglobinuria (PNH) is a rare blood disorder characterized by the breakdown of red blood cells in the bloodstream, causing dark urine. It results from a genetic mutation in stem cells, making red blood cells vulnerable to destruction by the immune system. Symptoms include dark urine, back pain, headaches, and easy bruising. Diagnosis involves blood tests to detect low red and white blood cell counts. Treatment options include blood transfusions, blood thinners like eculizumab to prevent cell breakdown, and bone marrow transplants to cure the disease.

1. Tahira Khatoon
Federal Urdu University Karachi
4th
Professional Year, Pharm-D
Assignment FHCP submitted to NIBD
Paroxymal
Nocturnal
Haemoglobinuria

2. Paroxysmal nocturnal hemoglobinuria
• Paroxysmal nocturnal hemoglobinuria (PNH) is a rare,
chronic, debilitating disorder that most frequently
presents in early adulthood and usually continues
throughout the life of the patient.
• The name of the disorder is a descriptive term for the
clinical consequence of red blood cell (RBC) breakdown
with release of hemoglobin into the urine, which
manifests most prominently as dark-colored urine in the
morning.

3. PNH
This series of containers holds urine of a patient with
paroxysmal nocturnal hemoglobinuria, showing the episodic
nature of the dark urine (hemoglobinuria) during intravascular
hemolysis, usually occurring at night. Early morning urine is
cola-colored. This may occur at different times of the day and
vary from patient to patient. Permission to use this image has
been granted by the American Society of Hematology Slide
Bank, 3rd edition.

4. Etiology
• PNH is an acquired genetic mutation resulting in a
membrane defect in stem cells and their progeny,
including RBCs, WBCs, and platelets. It results in
unusual sensitivity to normal C3 in the plasma, leading to
ongoing intravascular hemolysis of RBCs and diminished
marrow production of WBCs and platelets.

5. Cont.
• Persons with this disease have blood cells that are
missing a gene called PIG-A. This gene allows a substance
called glycosyl-phosphatidylinositol (GPI) to help certain
proteins stick to cells.
• Without PIG-A, important proteins cannot connect to the
cell surface and protect the cell from substances in the
blood called complement. As a result, red blood cells
break down too early. The red cells leak hemoglobin into
the blood, which can pass into the urine. This can happen
at any time, but is more likely to occur during the night
or early morning.

6. Symptoms Of PNH
• The primary symptom of PNH is Discolored Urine. Prematurely
destroyed red blood cells lead to the release of hemoglobin into your
urine. Hemoglobin is what makes your blood red. You can usually see the
discoloration at night or early in the morning, after urine has accumulated
in your bladder. Some people with PNH, however, won’t see a
discoloration. Hemoglobin may be present in your urine at levels that
aren’t visible just by looking at the urine.
• Other symptoms of having PNH include:
• back pain
• a headache
• shortness of breath
• abdominal pain
• bruising easily

7. Diagnosis
• Red and white blood cell counts and platelet counts may be low.
• Red or brown urine signals the breakdown of red blood cells and
that hemoglobin is being released into the body's circulation and eventually
into the urine.
• Tests that may be done to diagnose this condition include:
• Complete blood count (CBC)
• Coombs' test
• Flow cytometry to measure certain proteins
• Ham's (acid hemolysin) test
• Serum hemoglobin and haptoglobin
• Sucrose hemolysis test
• Urinalysis
• Urine hemosiderin

8. Treatment
• Blood transfusions: These help treat anemia, the most common
PNH problem.
• Blood thinners: These medicines make your blood less likely to
clot.
• Eculizumab (Soliris):The only drug approved to treat PNH, it
prevents the breakdown of red blood cells. This can improve
anemia, lower or stop the need for blood transfusions, and reduce
blood clots. It can make you more likely to get a meningitis infection,
so you may need to get a meningitis vaccine.
• Bone marrow stem cell transplant:This procedure is the only cure
for PNH. To get one, you’ll need someone healthy, usually a brother
or sister, to donate stem cells to replace the ones in your bone
marrow. These are not “embryonic” stem cells.

9. Reference
• emedicine.medscape.com/article/207468-
overview
• https://rarediseases.org › For Patients and
Families › Rare Disease Information
• https://www.webmd.com/a-to-z-
guides/paroxysmal-nocturnal-hemoglobinuria-
pnh
• https://www.slideshare.net/.../paroxysmal-
nocturnal-hemoglobinuria-50930554