PKLR and anemia, nonspherocytic hemolytic: This missplicing results in a premature stop codon and disrupts PKLR tetramer formation owing to the partial loss of domain A and complete loss of domain C. Enzyme activity assays confirmed a complete loss of function in the mutant PKLR protein compared to the wild-type, supporting the causal role of this deletion in non-spherocytic hemolytic anemia.