Emoglobinuria parossistica notturna

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ABSTRACT

Paroxysmal nocturnal hemoglobinuria

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired hematological disease of the hematopoietic stem cell. PNH arises as a consequence of non-malignant clonal expansion of hematopoietic stem cells and progeny mature blood cells of both myeloid and monocyte lineage, which are deficient in some surface proteins, including the two complement regulators CD55 and CD59. As a result, PNH erythrocytes are incapable to modulate on their surface physiologic complement activation, leading to complement-mediated intravascular hemolysis, which is the central clinical feature of PNH. Diagnosis and monitoring of PNH clones currently rely on the analysis of CD59 expression on red blood cells and FLAER (fluorescent aerolysin) and some glycophosphatidylinositol-anchored proteins on granulocyte and monocyte lineages by flow cytometry. Despite the availability of safe and effective targeted therapy that controls intravascular hemolysis, the management of PNH remains difficult because of disease heterogeneity and close association with bone marrow failure syndromes.

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