Table 2.
Laboratory data of human HO-1 deficiency with null mutations of HMOX1.
| Findings | Case 1 | Case 2 | Case 3 | Case 4 | Case 5 | Case 6 | Case 7 | Case 8 | Case 9 |
|---|---|---|---|---|---|---|---|---|---|
| Mutations of HMOX1 |
exon 2 del 2-bp del (exon 3) |
R44X (homo) |
R44X (homo) |
R44X (homo) |
R44X (homo) |
R44X (homo) |
K204X (homo) |
G139V (homo) |
c.636+2T>A p.L89Sfs24 |
| Mother Father |
exon 2 del exon 3; 2-bp del |
not done not done |
not done not done |
not done not done |
R44X/W * R44X/W |
R44X/W R44X/W |
K204X/W K204X/W |
G139V/W G139V/W |
c.636+2T>A/W p.L89Sfs24/W |
| CRP (mg/dL) |
6.7 | 30.8 | 5.3 | normal | 24.0 | 4.8 | 12.4 | 24.0 | not shown |
| FDP-DD (mg/mL) | 186.1 | >8 | not done | normal | not done | not done | not done | not done | >20 |
| WBC (×103/mL) | 51.6 | 18.5 | 38.0 | 39.6 | not shown | 43.2 | 33.0 | 19.9 | 53.8 |
| Plt (×104/mL) | 226 | 137 | 109 | 117 | 100 | 123 | 100 | 47.8 | 91.4 |
| Ferritin (ng/mL) | 780 | 4912 | 15,530 | 15,358 | 2500 | >2000 | 27,425 | 4855 | 1980 |
| LDH (IU/L) | 17,470 | 9462 | 12,858 | 16,000 | 4000 | 21,400 | 15,350 | 15,713 | 19,706 |
| AST/ ALT (IU/L) |
448/ 74 |
982/ 149 |
1080/ 283 |
689/ 68 |
300/ 80 |
652/ 133 |
580/ 813 |
not shown | 301/ 74 |
| Bilirubin (mg/dL) | 0.2 | 0.64 | 1.2 | 0.3 | 0.4 | 0.02 | 0.8 | 0.2–1.6 | 0.2 |
* W; wild type.