Paroxysmal Nocturnal Hemoglobinuria
Full Form of PNH
What is PNH?
Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare, acquired blood disorder characterized by the destruction of red blood cells (hemolysis), thrombosis (blood clots), and impaired bone marrow function. It results from a somatic mutation in the PIG-A gene, leading to a deficiency of GPI-anchored proteins on blood cell surfaces, making them susceptible to complement-mediated lysis. In India, PNH is diagnosed across hematology centers with a prevalence estimated at 1–5 per million. It most commonly presents in young adults and can be misdiagnosed as aplastic anemia or other hemolytic anemias. The condition is managed through complement inhibitors like eculizumab, which have improved outcomes significantly. PNH is a high-yield topic for the NEET PG and USMLE examinations due to its unique pathophysiology and clinical triad of hemoglobinuria, abdominal pain, and venous thrombosis. Early recognition and treatment are critical to preventing life-threatening complications. Awareness in Indian medical education is growing, with case reports and research emerging from major institutes like AIIMS and CMC Vellore.
PNH का फुल फॉर्म
पैरॉक्सिस्मल नॉक्टर्नल हीमोग्लोबिन्यूरिया
Example
A 28-year-old male from Mumbai presented with dark urine in the morning and was later diagnosed with Paroxysmal Nocturnal Hemoglobinuria after a flow cytometry test confirmed GPI-anchor deficiency.