Table 2. Summary of Laboratory Findings for the Proband and her Family.
| Test, units (reference range) | Sib 1 – proband | Sib 2 – affected | Sib 3 – affected | Sib 4 – unaffected | Sib 5 – unaffected | Mother | Father |
|---|---|---|---|---|---|---|---|
| Hematocrit, % (34-48) | 29 | 33 | 32 | 36 | 32 | 38 | 41 |
| Serum ferritin, ng/mL (10-290) | 317 | 50 | 362 | 18 | 30 | 21 | 76 |
| Urine total porphyrins, nmol/24 hours (0-300) | 6,294 | 511 | 3,495 | 108 | 40 | 123 | 16 |
| Urine porphyrin pattern, %: | |||||||
| Uro (0-30) | 33 | 22 | 22 | N/A | N/A | N/A | N/A |
| Heptacarboxyl (0-5) | 25 | 29 | 27 | ||||
| Hexacarboxyl (0-5) | 10 | 13 | 12 | ||||
| Pentacarboxyl (0-5) | 9 | 11 | 13 | ||||
| Copro (50-100) | 23 | 25 | 26 | ||||
| Plasma total porphyrins, μg/dL (0-0.9) | 38.1 | 16.6 | 32.3 | 0.2 | 0.2 | 0.3 | 0.2 |
| Fluorescence peak, nm | 619 | 620 | 619 | No peak | No peak | No peak | No peak |
| Erythrocyte protoporphyrin, μg/dL (20-80) | 1,690* | 1,749* | 2,058* | 42 | 68 | 62 | 58 |
| Erythrocyte UROD activity, nmol/mL RBC/hr (35-60) | 16.2 | 13.8 | 15 | 45.8 | 53.6 | 38.1 | 43.8 |
| UROD mutation | del1053/ins10 V166A | del1053/ins10 V166A | del1053/ins10 V166A | V166A | V166A | del1053/ins10 | V166A |
| HFE mutation | H63D | - | H63D | N/A | N/A | - | N/A |
N/A, not available; sib, sibling; abnormal values are italicized
*
∼70% Zn-protoporphyrin.