Thelansis

 Pyruvate kinase deficiency (PKD) is a rare congenital disorder characterized by the diminished activity of the PK enzyme in red blood cells (RBCs). Low PK enzyme activity can lead to lifelong chronic hemolysis and associated symptoms and complications such as anemia, jaundice, gallstones, thrombosis, and iron overload. PK deficiency is a recessive disorder caused by compound heterozygosity or homozygosity for one or more of >300 known mutations to the PKLR gene. The large number of PKLR mutations, which may have different impacts on PK function, likely contributes to the notable clinical heterogeneity of this disorder. The degree of hemolysis varies, ranging from mild or fully compensated forms to life-threatening neonatal anemia necessitating exchange transfusions and subsequent continuous transfusion support. ·        The prevalence of pyruvate kinase deficiency (PKD) was estimated to be 7.2 to 9.2 cases per million.   Thelansis’s “Pyr...

 Pyruvate kinase deficiency (PKD) is a rare congenital disorder characterized by the diminished activity of the PK enzyme in red blood cells (RBCs). Low PK enzyme activity can lead to lifelong chronic hemolysis and associated symptoms and complications such as anemia, jaundice, gallstones, thrombosis, and iron overload. PK deficiency is a recessive disorder caused by compound heterozygosity or homozygosity for one or more of >300 known mutations to the PKLR gene. The large number of PKLR mutations, which may have different impacts on PK function, likely contributes to the notable clinical heterogeneity of this disorder. The degree of hemolysis varies, ranging from mild or fully compensated forms to life-threatening neonatal anemia necessitating exchange transfusions and subsequent continuous transfusion support. ·        The prevalence of pyruvate kinase deficiency (PKD) was estimated to be 7.2 to 9.2 cases per million. Thelansis’s “Pyruvate Kin...