Hereditary Hemochromatosis Manifesting After Treatment of Paroxysmal Nocturnal Hemoglobinuria with Eculizumab

Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare clonal hematopoietic stem cell disorder caused by an acquired somatic mutation in one of the genes required for synthesis of glycosylphosphatidylinositol (GPI), an anchoring protein.1 –8 GPI binds several proteins to the cell including CD55 and CD59, which inhibit cellular destruction by the alternate complement pathway. Without these proteins, PNH erythrocytes are susceptible to hemolysis via the membrane attack complex.1–8 The degree of hemolysis in PNH often exceeds the ha ptoglobin binding capacity of the plasma, resulting in hemoglobinuria.

Source: Clinical Lymphoma, Myeloma and Leukemia - October 7, 2017 Category: Hematology Authors: Elizabeth Elliott, Salman Waheed, Sahr Syed, Sheila Eswaran, Stephanie Gregory, Jamile Shammo Tags: Case Report Source Type: research