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Hemoglobinuria, Paroxysmal Nocturnal
Condition Overview: Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired stem cell disorder. The classic finding is the premature destruction of red blood cells (hemolysis), resulting in repeated episodes of hemoglobin in the urine (hemoglobinuria). Hemoglobin is the red, iron-rich pigment of blood. Individuals with hemoglobinuria may exhibit dark-colored or bloody urine. In addition to hemolysis, individuals with PNH are also susceptible to developing repeated, potentially life-threatening blood clots (thromboses).Affected individuals also have some degree of underlying bone marrow dysfunction or insufficiency. Bone marrow, the spongy center of the large bones of the body, produces hematopoietic stem cells, which grow and eventually develop into red blood cells (erythrocytes), white blood cells (leukocytes), and platelets. Severe bone marrow dysfunction potentially results in low levels of red and white blood cells and platelets (pancytopenia). The specific symptoms of PNH vary greatly and affected individuals usually do not exhibit all of the symptoms potentially associated with the disorder. Researchers believe that two factors are necessary for the development of PNH: an acquired somatic mutation of the PIG-A gene, which affects hematopoietic stem cells; and a predisposition to the multiplication and expansion of these defective stem cells. |
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