Table 2. Clinical and laboratory data in hereditary IFD with mutations in GIF.
| Case | Sex | Age at diagnosis, years | Schilling test | Proteinuria, mg/liter | Serum cobalamin, pg/ml | Serum folate, ng/ml | Hemoglobin, g/dl | Mean cellular volume, fl | Reticulocyte count, % |
|---|---|---|---|---|---|---|---|---|---|
| Kuwait 1 | |||||||||
| Case 1 | M | 1.5 | Mal, NC by IF | 50 | 247 | 2.8 | 6 | 97.9 | NA |
| Case 2 | M | 15 | Mal, NC by IF | None | 31 | 5 | 7.9 | 123.7 | NA |
| Case 3 | M | 17 | Mal, NC by IF | None | 245 | 10.5 | 4.2 | 101 | NA |
| Case 4 | M | 5 | Mal, NC by IF | 170 | 94 | 6.8 | 5.4 | 104 | NA |
| Kuwait 2 | |||||||||
| Case 5 | M | 2.5 | Mal, NC by IF | 800 | 112 | 7.4 | 5.5 | 109 | NA |
| Case 6 | F | 4.6 | Mal, NC by IF | 200 | 117 | 13.6 | 6.5 | 97.4 | NA |
| Case 7 | M | 10 | Mal, NC by IF | 80 | 411 | 5.6 | 6.9 | 109.6 | NA |
| Fam 8 | |||||||||
| 8-01 | M | 15 | 58Co, 0.92%; 57Co, 3.57% | 117 | 100 | >20.7 | 5.9 | 103.6 | 1 |
| Turk AT | |||||||||
| A001 | F | 1 | NA | Yes | 96 | 4 | 6 | 94 | 1.1 |
| Turk IT | |||||||||
| I028 | F | 10 | 58Co, 2%; 57Co, 7% | Yes | 30 | 11 | 4 | 93 | 0.4 |
| I030 | M | NA | NA | NA | NA | NA | NA | NA | NA |
| I031 | F | NA | NA | NA | NA | NA | NA | NA | NA |
| I032 | F | 1.5 | NA | NA | NA | NA | NA | NA | NA |
| Turk LT | |||||||||
| L043 | M | 2 | 58Co, 1%; 57Co, 1.3% | None | 96 | 9 | 4 | 96 | 0.4 |
| France 1 | |||||||||
| EN95 | F | 6 | NA | 70 (none) | 75 | 13 | 6.5 | 100 | 8.1 |
| PN99 | F | 1.5 | NA | 180 | 75 | 12 | 10 | 83 | 1.77 |
NA, not available; M, male, F, female; Mal, malabsorption; NC, not corrected.