HEMOGLOBINURIA (PNH)

Overview and Facts

Paroxysmal nocturnal hemoglobinuria (PNH) is an uncommon and life-threatening blood disorder. Hemolytic anemia or loss of red blood cells, thrombosis (blood clots), and bone marrow dysfunction are symptoms of the condition. PNH is a condition that predominantly affects young individuals and affects 1-1.5 people per million.

In a bone marrow stem cell, mutations produce PNH in the PIG-A gene. Stem cells create all adult blood products, including red blood cells that transport oxygen to our organs, white blood cells that fight infection, and platelets that aid in the formation of blood clots. In PNH, the PIG-A mutation is passed down from the afflicted stem cell to all cells generated from the aberrant stem cell. PIG-A mutations cause a deficiency in GPI-anchored proteins, which are a kind of protein. Specific GPI-anchored proteins protect red blood cells from destruction, while others aid blood coagulation and infection resistance. 

PNH is caused by a genetic abnormality that has been found. Researchers will be able to investigate the condition in previously impossible ways. They may get insight into building more effective medications due to their discovery of the genetic flaw.

Types and Symptoms

SYMPTOMS

Because of the vast range of symptoms associated with HEMOGLOBINURIA (PNH), it is not uncommon for months or even years to pass before an accurate diagnosis is made. The following are the most prevalent PNH symptoms:

  • Significant fatigue or weakness
  • Bruising or bleeding easily
  • Blood clots (thrombosis)
  • Recurring infections and flu-like symptoms
  • Rd patches on the skin
  • Severe headache
  • Shortness of breath
  • Controlling bleeding, even from tiny wounds, is difficult.
  • Fever due to infection

Diagnosis & Medications

DIAGNOSIS

If your doctor believes you have PNH, they may request blood tests to confirm the diagnosis. For many years, flow cytometry was the fundamental basis for cancer diagnosis. This laboratory approach may be used by clinicians to number blood cells in a specimen.

TREATMENT

The best treatment for PNH is determined by the severity of the symptoms. Some people with PNH have few or no symptoms and don’t need any treatment other than folic acid and iron supplementation to boost red blood cell formation. Depending on the severity of the patient’s symptoms, the disease may deteriorate over time, necessitating increasingly intensive supportive care. The following are some of the therapy options:

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