Table 1.

Ferritin level

FtL (ng/mg prot.)FtH (ng/mg prot.)
CTR111 ± 1.5162 ± 12.7
CTR219 ± 7.0116 ± 17.0
CTR310 ± 3.0133 ± 23.0
E104XUndetected148 ± 23.0
E104X-Lwt14 ± 1.0135 ± 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.