Biologic parameters of the patient and of his relatives at the time of the present study (2008)
| . | Normal values . | Patient . | Father . | Mother . | Twin sister . | Elder sister . |
|---|---|---|---|---|---|---|
| Age, y | 14 | 48 | 47 | 14 | 16 | |
| Hb, g/L | 120-155 | 86 | 151 | 127 | 144 | 142 |
| Hematocrit | 0.36-0.45 | 0.30 | 0.44 | 0.38 | 0.43 | 0.42 |
| MCV, fL | 80-90 | 54.3 | 85.7 | 85.8 | 86 | 79.1 |
| Reticulocytes, 109/L | 50-100 | 30 | ND | ND | ND | ND |
| Iron status | ||||||
| Serum iron (μmol/L) | 14.5-26.0 | 2.44 | 22 | 14.5 | 12 | 19 |
| Serum ferritin (μg/L) | 30-300 (M), 20-150 (F) | 9 | 88 | 10.4 | 9 | 20.2 |
| Soluble transferrin receptors (mg/L) | 0.83-1.76 | 6.52 | 1.44 | 1.52 | 1.6 | 1.17 |
| Plasma hepcidin (ng/mL) | *29-254 (M), *16-288 (F) | 70 | 191 | 24 | 66 | 86 |
| . | Normal values . | Patient . | Father . | Mother . | Twin sister . | Elder sister . |
|---|---|---|---|---|---|---|
| Age, y | 14 | 48 | 47 | 14 | 16 | |
| Hb, g/L | 120-155 | 86 | 151 | 127 | 144 | 142 |
| Hematocrit | 0.36-0.45 | 0.30 | 0.44 | 0.38 | 0.43 | 0.42 |
| MCV, fL | 80-90 | 54.3 | 85.7 | 85.8 | 86 | 79.1 |
| Reticulocytes, 109/L | 50-100 | 30 | ND | ND | ND | ND |
| Iron status | ||||||
| Serum iron (μmol/L) | 14.5-26.0 | 2.44 | 22 | 14.5 | 12 | 19 |
| Serum ferritin (μg/L) | 30-300 (M), 20-150 (F) | 9 | 88 | 10.4 | 9 | 20.2 |
| Soluble transferrin receptors (mg/L) | 0.83-1.76 | 6.52 | 1.44 | 1.52 | 1.6 | 1.17 |
| Plasma hepcidin (ng/mL) | *29-254 (M), *16-288 (F) | 70 | 191 | 24 | 66 | 86 |
ND indicates not determined; M, male; F, female.
5% to 95 % range (T. Ganz, G. Olbina, D. Girelli, E. Nemeth, M.W., unpublished data).