Table 1 Biochemical and clinical parameters of the affected members of the two pedigrees studied
Pedigree 1 | Pedigree 2 | ||||||||
|---|---|---|---|---|---|---|---|---|---|
Characteristic | III:2 (proband) | III:4 | III:9 | IV:1 | IV:2 | IV:3 | IV:1 (proband) | III:2 | Normal values |
Age at diagnosis (years) | 54 | 53 | 48 | 27 | 27 | 25 | 19 | 40 | |
Sex | F | F | M | F | M | M | M | M | |
Hb (g/dl) | 13.2 | 13.1 | 15.3 | 13.4 | 14.3 | 14.7 | 15.6 | 15 | ♂ 13,8–18 ♀ 12,1–15,1 |
MCV (fl) | 92.3 | 96 | 94.1 | 91.3 | 85.1 | 83.4 | 80.9 | 80,6 | 79–99 |
CRP (mg/L) | <5 | - | 4 | <5 | <5 | - | 4 | - | 5–10 |
Serum iron (μg/dl) | 74 | 56 | 79 | 37 | 124 | 243 | 127 | 111 | 37–170 |
TIBC (μg/dl) | 361 | - | 342 | 372 | 327 | 424 | - | - | 250–450 |
Serum ferritin (ng/ml) | 719 | 534 | 952 | 239 | 303 | 447 | 1290 | 1260 | ♂ 12–300 ♀ 12–200 |
Transferrin (mg/dl) | 252 | - | - | 260 | 229 | 296 | 291 | 300 | 200–360 |
Transferrin saturation (%) | 20 | - | 23.1 | 10 | 38 | 57 | 31 | 25 | 20–55 |
ALT (mU/ml) | 28 | 17 | 35 | 21 | 38 | 14 | - | - | 14–36 |
AST (mU/ml) | 35 | 20 | 40 | 20 | 30 | 30 | 27 | 33 | 9–52 |
Cataract diagnosis (years) | 20 | 17 | 20 | - | 27 | - | 16 | 16 | |
Cataract surgery (years) | 39 | - | - | - | - | - | - | - | |
HFE gene mutation | H63D+/−, S65C−/−, C282Y−/− | H63D−/−, S65C−/−, C282Y−/− | H63D+/+, S65C−/−, C282Y−/− | H63D−/−, S65C−/−, C282Y−/− | H63D−/−, S65C+/−, C282Y−/− | H63D−/−, S65C−/−, C282Y−/− | H63D−/−, S65C−/−, C282Y−/− | - | |
Mutation IRE L-ferritin | c.[−164C > T] + c.[−164C > T] | c.[−164C > T] + c.[−164C > T] | c.[−164C > T] + [=] | c.[−164C > T] + [=] | c.[−164C > T] + [=] | c.[−164C > T] + [=] | c.[−148 G > C] + [=] | c.[−148 G > C] + [=] | |
Badalona +36C > U | Badalona +36C > U | Badalona +36C > U | Badalona +36C > U | Badalona +36C > U | Badalona +36C > T | Heidelberg +52 G > C | Heidelberg +52 G > C | ||