A RARE HEMATOLOGICAL MANIFESTATION OF PAROXYSMAL NOCTURNAL HEMOGLOBINURIA(PNH) WITH PANCYTOPENIA IN A YOUNG MALE PATIENT

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare blood disorder that can cause severe complications like hemolytic anemia, bone marrow failure, and blood clots.¹ It occurs due to a mutation in the PIG-Agene,on chromosome Xp22.1, leading to the absence of protective proteins CD55 and CD59 on red blood cells.³ Without these proteins, the cells are vulnerable to the body's complement-mediated lysis. We encountered a 25-yearold man who presented with nasal, gum, and rectal bleeding, fatigue, breathlessness, and fever. His blood tests revealed severe pancytopenia, and a bone marrow biopsy showed aplasia. Flow cytometry confirmed CD55 deficiency, diagnosing him with PNH. He was treated with blood and platelet transfusions and antibiotics, and his condition improved. He was advised to consider a bone marrow transplant for long-term management. Apart from causing anemia and other symptoms, PNH can also cause life-threatening blood clots due to free hemoglobin disrupting nitric oxide levels, leading to vessel damage,making venous thrombosis a major cause of death. Treatment often includes eculizumab, which reduces hemolysis and clot risks, but it is costly and less effective in severe bone marrow failure.⁷ In such cases, stem cell transplantation is the only curative option. Early diagnosis in patients with unexplained anemia or pancytopenia is essential for timely and effective treatment.