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.