Abstract

MACIA PEREZ, Ivis; GARCIA PERALTA, Tania; FUNDORA SARRAFF, Teresa  and  FERNANDEZ DELGADO, Norma. Paroxysmal nocturnal hemoglobinuria: from Strübing to Eculizumab. Rev Cubana Hematol Inmunol Hemoter [online]. 2013, vol.29, n.3, pp. 218-232. ISSN 0864-0289.

Paroxysmal nocturnal hemoglobinuria (PNH) is a non malignant and acquired clonal disease of the hematopoietic stem cell. It is a severe and rare disease. It is the only acquired hemolytic disturbance that is caused for an erythrocyte membrane anomaly. It is a result of a somatic clonal mutation of one gene that is located in the short arm of X chromosome called phosphatidyl inositol glycan class A (PIG-A). Regulated complement proteins are identified: the decay accelerated factor (CD55) and the membrane inhibitor or reactive lysis (CD 59); the abnormal blood cells of PNH have deficiency of these two proteins. PNH is classified in: classic PNH, PNH associated with another bone marrow disturbance and PNH sub clinic. Diagnosis is obtained by hematological, biochemical, kinetics and imagenologics studies and serologic special tests. High resolution membrane protein electrophoresis and flow cytometry are the elective tests. Treatments for anemia, thrombotic episodes and infections are important in the management of these patients. Steroids, androgens, human recombinant erythropoietin and granulocytic colony stimulating factor (CSF-G) are the more used pharmacology agents. Recently, the monoclonal antibody eculizumab has increased the life expectation in these patients with a better quality of life.

Keywords : paroxysmal nocturnal hemoglobinuria; phosphatidylinositol glycan class A; multiparameter flow cytometry; eculizumab.

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