Abstract:Homozygous or compound heterozygous for Pyruvate Kinase (PK) deficiency are classical etiology for chronic non spherocytic hemolytic anemias while heterozygous carriers are free from disease. We report here 2 patients heterozygous for PK deficiency which displayed an unexpected marked chronic anemia. Enzymatic and molecular studies were performed to unravel the mechanism causing this phenotype. The first patient, a 60-year-old woman from Mali presented with Hb 10g/dL, MCV 98fL, and was free from any Hb abnorma… Show more
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.