Among the 30 children whose cause of anemia could not be determined through routine clinical diagnosis in our hematology department (Table 4), the overall diagnostic rate of gene detection was 80% (24/30), including 5 non-HS-related congenital anemia genes (GPI, PKLR, GATA1, CUBN, HBB) (16.66%, 5/30), and 19 cases were identified as HS-related genes (63.33%, 19/30). Here, PKLR is linked to anemia.