Table 1.
Erythrocyte Porphyrins, Hematological Measurements, and Serum Iron Indices in Patients with X-Linked Dominant Protoporphyria and Their Unaffected Relatives
| XLDPP |
Unaffected Relatives |
|||
|---|---|---|---|---|
| Male | Female | Male | Female | |
| Total protoporphyrin (fold increase) | 27, 11–103 (7) | 24, 6–64 (16) | Less than 1.0 | |
| Zinc protoporphyrin (% total) | 45, 19–58 (7) | 46, 30–65 (15) | Less than 80 | |
| Hemoglobin (g/dl) | 14.3, 12.2–17.5 (5) | 13.0, 12.4–14.1 (8) | 14.2, 13.1–14.7 (8) | 12.5, 11.9–14.2 (5) |
| MCV (fl) | 87, 78–92 (13) | 88, 84–96 (13) | ||
| Ferritin (μg/liter) | 24, 10–104 (5)∗ | 56, 21–154 (6) | 102, 41–231 (8) | 51, 33–91 (5) |
| Transferrin (g/liter) | 2.87, 1.93–3.81 (9) | 2.27, 1.59–2.84 (13) | ||
| Transferrin saturation (%) | 16, 3–39 (11)∗ | 26, 22–35 (13) | ||
| Transferrin receptor-1 (mg/liter) | 1.44, 1.24–2.59 (10)∗∗ | 1.16, 0.84–1.66 (13) | ||
Measurements are medians and ranges. ∗p = 0.02 versus unaffected male relatives; ∗∗p = 0.04 versus unaffected relatives; differences between other groups are not significant. Total porphyrin is expressed as n-fold increase (times upper limit of normal); for 17 patients with XLDPP in whom total erythrocyte porphyrin was measured by the same method,8 the median concentration was 51.2 μmol/liter, range 20.1–195.6 μmol/liter (reference range: less than 1.7 μmol/liter). Values in italics include male and female subjects.