Paroxysomal Nocturnal Hemoglobinuria (PNH)

PNH is an acquired clonal hematopoietic stem-cell disorder related to the occurrence of a somatic mutation in the PIG-A gen, located in the human X chromosome. This genetic alteration results in a partial or total deficiency of all proteins normally linked to the cell membrane by a glycosylphosphatidylinositol (GPI) anchor (GPI-anchored proteins...

PNH is an acquired clonal hematopoietic stem-cell disorder related to the occurrence of a somatic mutation in the PIG-A gen, located in the human X chromosome. This genetic alteration results in a partial or total deficiency of all proteins normally linked to the cell membrane by a glycosylphosphatidylinositol (GPI) anchor (GPI-anchored proteins) (2-3). Typical clinical features of PNH are bone marrow failure of variable severity, thrombosis in unusual sites, chronic intravascular hemolytic anemia that leads to hemoglobinuria, iron deficiency anemia, and increased incidence of acute myeloid leukemia.

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