Table 1.
Clinical, biochemical, and genetic data of patients affected of autosomal recessive non-HFE related HH due to HFE2 mutations. F, female; M, male. (a) Data before iron depletion. (b) Data after iron depletion. (c) Data at first analysis. (d) Second follow-up. (e) Most recent data (May 2020). n.a., not available. * Adult serum hepcidin reference values according to (Ganz et al., 2008) are: mean of 121 ng/mL (5–95% CI: 29–254 ng/mL) for men and mean of 87 ng/mL (5–95% CI: 17–286 ng/mL) for women.
| Family 1—Patient II.1 | Family 2—Patient II.2 | Normal Range | |
|---|---|---|---|
| ex | M | M | |
| Age at clinical diagnosis | 37 | 34 | |
| Hemoglobin, Hb (g/L) | 14.6 (a) | 14.9 (c) | M: 13.5–17.5 |
| 14.7 (b) | 16.7 (e) | F: 12.1–15.1 | |
| MCV (fl) | 86.5 (a) | 94.4 (c) | 80–95 |
| 84 (b) | 94.4 (e) | ||
| Serum iron (µg/dL) | 247 (a) | 267 (d) | 59–158 |
| 80 (b) | 109 (e) | ||
| Serum ferritin (µg/L) | 4620 (a) | 650 (c) 3952 (d) 27 (e) |
M: 12–300 |
| 29 (b) | F: 12–200 | ||
| Transferrin (mg/dL) | 198 (a) | 218 (d) | 220–400 |
| 406 (b) | 313 (e) | ||
| Transferrin Saturation (%) | 87 (a) | 84 (d) | 20–50 |
| 14 (b) | 25 (e) | ||
| Total Iron Binding Capacity (µg/dL) | n.a. | 301 (d) | 250–400 |
| 432 (e) | |||
| Hepcidin levels (ng/mL) | n.a. | 0.19 | M: 29–254 * |
| F: 17–286 * | |||
| MRI liver | 457 µmol Fe/g (a) | July 2019: 47 µmol Fe/g. |
<36 μmol Fe/g |
| 30 µmol Fe/g (b) | |||
| 13 µmol Fe/g (2020) | |||
| MRI heart | 9 ms (a) | No iron overload | |
| 15 ms (b) | |||
| 30 ms (2020) | |||
| Treatments | Phlebotomy (2014) | Phlebotomy Desferoxamine (until March 2020) |
|
| Erythroapheresis | |||
| Desferoxamine (2014) | |||
| rHuEPO (2014) | |||
| Genetics | HFE2: NM_213653.3: | HFE2: NM_213653.3: c.187C > T; c.187C > T p.Arg63Ter; p.Arg63Ter |
|
| c.445delG; c.445delG | |||
| p.Asp149ThrfsTer97; | |||
| p.Asp149ThrfsTer97 |