Blood & Immune
Also called PNH, Marchiafava-Micheli Syndrome
Paroxysmal Nocturnal Hemoglobinuria results from acquired somatic mutations in the PIGA gene, which encodes a protein essential for biosynthesis of glycosylphosphatidylinositol (GPI) anchors. These anchors normally attach proteins that protect blood cells from complement-mediated destruction.
Paroxysmal Nocturnal Hemoglobinuria can develop at any age, from childhood to elderly, with median age of diagnosis around 35-40 years. It affects males and females equally. The disease occurs across all racial and ethnic groups. It is acquired somatically and not inherited, resulting from a single PIG-A gene mutation in a hematopoietic stem cell that then expands clonally. About 10-25% of PNH patients have concurrent myelodysplastic syndrome or aplastic anemia.
Clinical trials for Paroxysmal Nocturnal Hemoglobinuria focus on complement inhibitors at various pathway points, with several now FDA-approved, and newer agents continuing to expand treatment options. Trials investigate combination approaches, optimal timing of treatment initiation, and strategies to achieve complete complement inhibition. Research explores recovery of GPI-anchored protein expression through gene therapy. Patients should consult with a PNH specialist and consider enrollment in disease registries to track long-term outcomes.
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