Table 1.
Erythrocyte indices and ektacytometric parameters
| Proband | Mother | Father | |
|---|---|---|---|
| RBC, ×1012/L | 0.94 | 3.55 | 4.85 |
| Hb, g/L | 38 | 116 | 156 |
| Hematocrit, % | 9.4 | 32.6 | 43 |
| MCV, fL (86-98) | 100.6 | 91.8 | 88.6 |
| MCH, pg (27-32) | 41 | 32.5 | 32.1 |
| MCHC, g/L (measured; 320-360) | 359 | 374 | 376 |
| Hyperdense cells, %* | 13.7 | 12.5 | 8.7 |
| Reticulocytes, 109/L (%) | 162 (17.2) | 120.7 (3.4) | 101.9 (2.1) |
| MCVr, fL† | 110.5 | 101.8 | 100.2 |
| Omin‡ | 240 | 169 | 164 |
| DImax‡ | 0.05 | 0.35 | 0.34 |
| O′‡ | 361 | 350 | 351 |
Red cell indices were determined using the Advia 120 automat (Bayer Diagnostic France, Puteaux, France). Normal values for MCV, MCH, and MCHC are shown in parentheses.
MCH indicates mean corpuscular hemoglobin; MCHC, MCH concentration; and MCVr, mean cell volume of reticulocytes.
*
Normal values, lower than 4%; hemoglobin concentration, greater than 410 g/L (41.0 g/dL).
†
Normal values, 109.8 ± 6.1 fL (n = 37). In the proband, high MCV was in keeping with age (11 days), and MCH was increased accordingly.
‡
Ektacytometric parameters Omin, DImax, and O′ are defined in the legend for Figure 1.