1 The disease is caused by mutations in the PKLR gene, which are transmitted as an autosomal recessive trait with affected individuals being either homozygotes or compound heterozygotes. The prevalence of PK deficiency has been estimated to be 1:20 000 in the general white population. ![]() Pyruvate kinase (PK) deficiency is the most common enzymatic defect of the glycolytic pathway, causing hereditary nonspherocytic hemolytic anemia. The results allowed us to correlate the severity of the clinical phenotype with the identified variants. ![]() This is the first comprehensive report on molecular characterization of pyruvate kinase deficiency from South America. The allelic frequency of c.1456C>T was 0.1% and the 1529G>A variant was not found. All the three missense variants involve conserved amino acids, providing a rationale for the observed enzyme deficiency. Ten different variants were identified in the PKLR gene, of which three are reported here for the first time: p.Leu61Gln, p.Ala137Val and p.Ala428Thr. A non-affected group of Brazilian individuals were also screened for the most commonly reported variants (c.1456C>T and c.1529G>A). Sanger sequencing and in silico analysis were carried out to identify and characterize the genetic mutations. This study reports on the molecular characterization of ten Brazilian pyruvate kinase-deficient patients and the genotype–phenotype correlations. The disease is transmitted as an autosomal recessive trait and shows a marked variability in clinical expression. ![]() Pyruvate kinase deficiency is a hereditary disease that affects the glycolytic pathway of the red blood cell, causing nonspherocytic hemolytic anemia.
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