Published: 2021-02-23

Menorrhagia in a teenager: a rare presentation of paroxysmal nocturnal haemoglobinuria

Salma Sadaf, Pushpalatha Kariyappa


Paroxysmal nocturnal hemoglobinuria (PNH) is a rare clonal disorder characterised by complement mediated hemolysis, thrombosis and bone marrow failure due to mutation of PIG A gene on chromosome X which codes for decoy proteins Glycoprotein anchor (CD55 and CD59) on hematopoietic stem cells. Onset of PNH is typically seen in adulthood. Pediatric cases account for 5-10% of all reported cases. It is largely underdiagnosed in children because of varied presentation and atypical symptoms. Here, we report a young girl who presented with menorrhagia and severe pallor which when evaluated unmasked the underlying PNH with aplastic anemia. She underwent a successful hematopoietic stem cell transplant. She has remained asymptomatic for 2 years highlighting the need for early evaluation and management for a better outcome.


PNH, Menorrhagia, Teenager, Pancytopenia, Hemoglobinuria, Nocturnal, Aplastic anemia

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