Table 1.
Laboratory test results
| Tests | Pedigree 1 | Pedigree 2 | References | ||
|---|---|---|---|---|---|
| II: 2 | I: 1 | II: 2 | II: 1 | ||
| RBC (×1012/L) | 2.22 | 5.14 | 1.67 | 3.35 | 4.00‐5.50 |
| Hb (g/L) | 60.00 | 168.00 | 48.00 | 95.00 | 110.00‐160.00 |
| MCV | 76.00 | 88.90 | 91.60 | 77.90 | 73.00‐100.00 |
| MCH (pg) | 27.00 | 32.70 | 28.70 | 28.00 | 27.00‐32.00 |
| MCHC (g/L) | 355.00 | 368.00 | 314.00 | 360.00 | 320.00‐410.00 |
| RDW | 21.40 | 12.90 | 31.80 | NA | 11.00‐16.00 |
| PCV (%) | 13.04 | 45.70 | 15.30 | 26.40 | 34.00‐48.00 |
| Reticulocyte | 7.57 | 2.48 | 8.55 | 8.55 | 0.50‐1.50 |
| T‐Bil (μmol/L) | 53.53 | NA | 43.40 | NA | 3.40‐17.10 |
| D‐Bil (μmol/L) | 9.40 | NA | 9.00 | NA | 0‐6.80 |
| Haemolysis begins | 0.64 | 0.60 | 0.62 | 0.50 | 0.38‐0.40 |
| Haemolysis complete | 0.44 | 0.44 | 0.44 | 0.36 | 0.30‐0.34 |
Abbreviations: D‐Bil, direct bilirubin; MCH, mean corpuscular haemoglobin; MCHC, mean corpuscular haemoglobin concentration; MCV, mean corpuscular volume; NA, not available; PCV, packed cell volume; RBC, red blood cell; RDW, red blood cell distribution width; T‐Bil, total bilirubin.