Red Blood Cell Enzymopathies

Red blood cell (RBC) enzymopathies are a class of genetic disorders that affect the enzymes responsible for RBC metabolism. They present with non-spherocytic hemolytic anemia (NSHA) because of RBC’s decreased ability to manage oxidative stress and/or keep up with metabolic demands. The diagnosis of an RBC enzymopathy usually requires laboratory evidence of a nonimmune (i.e., negative direct antiglobulin test [DAT] or “Coombs test”) hemolytic anemia in association with a screening tool such as a quantitative spectrophotometric assay of the suspected enzyme deficiency that may then be confirmed by molecular testing finding a known pathogenic mutation. Severity is highly variable; however, the prognosis of RBC enzymopathies is typically favorable as the treatment is most often supportive care with packed red blood cell transfusions and management of the complications from chronic hemolysis.