Skip to main content
. 2022 Oct 13;20:eRC0076. doi: 10.31744/einstein_journal/2022RC0076

Table 1. General patient information, clinical data, and classification of alterations according to American College of Medical Genetics and Genomics criteria.

ID Sex/Age TS (%) / and SF (μg/L) 2016 TS (%) / and SF (μg/L) 2020 Liver iron concentration (mg/g) 2020 FTL variants ACMG criteria ACMG
#01 Female/41 28/1,487 33/1,434 1.0 c-164 C>A PS, PM, PP Pathogenic
#02 Female/67 46/1,703 34/2,145 1.3 c-164 C>A PS, PM, PP Pathogenic
#03 Male/11 28/1,260 46/1,308 0.8 c-164 C>A PS, PM, PP Pathogenic

ID: identification; TS: transferrin saturation; SF: serum ferritin; PS: pathogenic strong; PM: pathogenicity moderate; PP: pathogenicity supplementary; FTL: ferritin light chain; ACMG: American College of Medical Genetics and Genomics.