Patients with no IRE mutation
. | . | HFE genotype . | . | . | Cataract (age at surgery) and serum iron* . | |
|---|---|---|---|---|---|---|
| No. . | Age, y/sex . | Cys282Tyr . | His63Asp . | Serum ferritin, μg/L* . | . | |
| 25 | 58/M | C/C | H/H | 2875 | ||
| 26 | 53/M | C/C | H/H | 986 | SI, 9 μM | |
| 27 | 6/F | C/C | H/H | 200 | Left eye cataract; posterior, subcapsular | |
| 28 | 48/F | Y/Y | H/H | 1600 | Cataract (40 y) | |
| 29 | 68/M | C/C | H/D | 1000 | ||
| 30 | 70/M | C/C | H/D | 761 | SI, 15 μM; 32% Tf saturation | |
| 31 | 46/M | C/C | H/D | 465 | Cataract (42 y); SI, 28 μM | |
| 32 | 86/F | C/C | H/D | NA | Cataract | |
| 33 | 80/F | C/C | H/D | 800 | Cataract | |
| 34 | 57/F (daughter of no. 33) | C/C | H/H | 400 | Multiple lens opacifications; no cataract | |
| 35 | 50/M | C/C | H/D | 1500-2000 | SI, 32 μM | |
| 36 | 75/M | C/C | H/D | 1535-1191 | Cataract (60 y); SI, 27 μM | |
| 37 | 68/M | C/Y | H/H | 508 | Cataract (54 y) | |
| 38 | 63/M | C/C | D/D | 3018 | Bilateral cataract (46 y) | |
| 39 | 49/F | C/C | H/H | 1700-2000 | Bilateral cataract (operated at 42 y) | |
| 40 | 50/M | C/C | H/H | 1500 | Cataract (42 y) | |
| 41 | 69/M | C/C | H/H | > 1000 | Bilateral cataract (50 y) | |
| 42 | 57/M | C/C | H/H | 1423 | Cataract; SI, 16 μM | |
| 43 | 33/F | C/C | H/H | 1200 | ||
| 44 | 65/M | C/C | H/D | 1840 | No | |
| 45 | 75/M | C/C | H/D | 1000-2500 | Bilateral cataract; SI, 17 μM | |
| 46 | 50/M | C/C | H/H | 1000 | Bilateral cataract (37 y) | |
| 47 | 64/M | C/C | H/H | 1405 | Bilateral cataract (54 y) | |
| 48 | 61/M | C/C | H/D | 4069 | ||
| 49 | 69/F | C/C | H/H | 1000 | No cataract; SI, 25 μM | |
| 50 | 61/F | C/Y | H/D | 551 | ||
| 51 | 56/M | C/C | H/D | 3300 | Cataract; SI, 27 μM | |
| 52 | 53/F | C/Y | H/H | 2140 | Obesity and diabetes; severe cataract; SI, 21 μM; 38 % Tf saturation | |
. | . | HFE genotype . | . | . | Cataract (age at surgery) and serum iron* . | |
|---|---|---|---|---|---|---|
| No. . | Age, y/sex . | Cys282Tyr . | His63Asp . | Serum ferritin, μg/L* . | . | |
| 25 | 58/M | C/C | H/H | 2875 | ||
| 26 | 53/M | C/C | H/H | 986 | SI, 9 μM | |
| 27 | 6/F | C/C | H/H | 200 | Left eye cataract; posterior, subcapsular | |
| 28 | 48/F | Y/Y | H/H | 1600 | Cataract (40 y) | |
| 29 | 68/M | C/C | H/D | 1000 | ||
| 30 | 70/M | C/C | H/D | 761 | SI, 15 μM; 32% Tf saturation | |
| 31 | 46/M | C/C | H/D | 465 | Cataract (42 y); SI, 28 μM | |
| 32 | 86/F | C/C | H/D | NA | Cataract | |
| 33 | 80/F | C/C | H/D | 800 | Cataract | |
| 34 | 57/F (daughter of no. 33) | C/C | H/H | 400 | Multiple lens opacifications; no cataract | |
| 35 | 50/M | C/C | H/D | 1500-2000 | SI, 32 μM | |
| 36 | 75/M | C/C | H/D | 1535-1191 | Cataract (60 y); SI, 27 μM | |
| 37 | 68/M | C/Y | H/H | 508 | Cataract (54 y) | |
| 38 | 63/M | C/C | D/D | 3018 | Bilateral cataract (46 y) | |
| 39 | 49/F | C/C | H/H | 1700-2000 | Bilateral cataract (operated at 42 y) | |
| 40 | 50/M | C/C | H/H | 1500 | Cataract (42 y) | |
| 41 | 69/M | C/C | H/H | > 1000 | Bilateral cataract (50 y) | |
| 42 | 57/M | C/C | H/H | 1423 | Cataract; SI, 16 μM | |
| 43 | 33/F | C/C | H/H | 1200 | ||
| 44 | 65/M | C/C | H/D | 1840 | No | |
| 45 | 75/M | C/C | H/D | 1000-2500 | Bilateral cataract; SI, 17 μM | |
| 46 | 50/M | C/C | H/H | 1000 | Bilateral cataract (37 y) | |
| 47 | 64/M | C/C | H/H | 1405 | Bilateral cataract (54 y) | |
| 48 | 61/M | C/C | H/D | 4069 | ||
| 49 | 69/F | C/C | H/H | 1000 | No cataract; SI, 25 μM | |
| 50 | 61/F | C/Y | H/D | 551 | ||
| 51 | 56/M | C/C | H/D | 3300 | Cataract; SI, 27 μM | |
| 52 | 53/F | C/Y | H/H | 2140 | Obesity and diabetes; severe cataract; SI, 21 μM; 38 % Tf saturation | |
For the Cys282 Tyr mutation, patients were either wild-type (C/C), heterozygous (C/Y), or homozygous (Y/Y) for the mutation. Similarly, for the His63Asp mutation, patients were either wild-type (H/H), heterozygous (H/D), or homozygous (D/D). NA indicates not available.
Normal values for serum ferritin are 50-350 μg/L and for serum iron (SI) 8-24 μM.