Ferritin level
| FtL (ng/mg prot.) | FtH (ng/mg prot.) | |
| CTR1 | 11 ± 1.5 | 162 ± 12.7 |
| CTR2 | 19 ± 7.0 | 116 ± 17.0 |
| CTR3 | 10 ± 3.0 | 133 ± 23.0 |
| E104X | Undetected | 148 ± 23.0 |
| E104X-Lwt | 14 ± 1.0 | 135 ± 33.0 |
| FtL (ng/mg prot.) | FtH (ng/mg prot.) | |
| CTR1 | 11 ± 1.5 | 162 ± 12.7 |
| CTR2 | 19 ± 7.0 | 116 ± 17.0 |
| CTR3 | 10 ± 3.0 | 133 ± 23.0 |
| E104X | Undetected | 148 ± 23.0 |
| E104X-Lwt | 14 ± 1.0 | 135 ± 33.0 |
L (FtL) and H (FtH) chain ferritin was analyzed in cell extracts of fibroblasts from three different healthy control probands, our patient (E104X), and patient fibroblasts with forced FtL expression (E104X-Lwt) by an ELISA. The results are shown as nanograms/milligram of ferritin of total soluble proteins. The values are the means and SD of three independent experiments.