TABLE 1.
Hematologic data collected from publications describing patients with V282M or R352H KCNN4 mutation (1 Andolfo et al. 2015,2 Waldstein et al. 2021,3 Rapetti-Mauss et al. 2015) and from the new patients with V222L or H340N KCNN4 mutations.
| Parameters | Normal range | V282M Worcester1 | R352H Naples1 | R352H Milan1 | R352H American2 | R352H Marseille3 | R352H Paris3 | V222L Nantes | H340N Paris | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| III.5 | IV.5 | F | Child | Father | Child (F) | Mother | Daughter | Son | Mother | Child (M) | Mother | Child (M) | Proband A (F) | Proband B (M) | ||||||
| Pre-splen | Post-splen | |||||||||||||||||||
| Age (years) | — | 56 | 21 | 13 | 40 | 10 | 40 | 1 | 61 | 39 | 34 | 0.4 | 25 | 2 | 3.5 | 4.2 | 0.75 | 1.3 | 4.3 | |
| Hb (g/dl) | 11.5–16.5 | 13.3 | 12.5 | 10.4 | 9 | 10.5 | 10.5 | 9.9 | 10.5 | 11.1 | 9.3 | 8.5 | 9.8 | 11 | 10.4 | 7.5 | 8.9 | 7.7 | 12.3 | 13.7 |
| RBC (1012/L) | 3.8–5.8 | 3.9 | 3.3 | 3 | 2.5 | 3.6 | 2.72 | 3.11 | 2.4 | 4.23 | ||||||||||
| Hct (%) | 37–47 | 37 | 35.6 | 30.5 | 28.5 | 31.3 | 22.5 | 25.4 | 21.6 | |||||||||||
| MCV (fL) | 76–96 | 103 | 96 | 101 | 112 | 86 | 108 | 81.5 | 106.5 | 99.9 | 98.8 | 109 | 87.9 | 93.1 | 86.9 | 82.8 | 81.7 | 90 | 77.3 | 79.6 |
| MCH (pg/cell) | 27–32 | – | 33.7 | 34.3 | 35.4 | 28.8 | 35.8 | 29.1 | 27.6 | 28.6 | 32 | 29.1 | ||||||||
| MCHC (g/dl) | 30–35 | – | 36.1 | 34 | 31.6 | 33.5 | 33 | 35.7 | 34.1 | 33.9 | 32.9 | 35.4 | 35.6 | 36.1 | 36.5 | 33.3 | 35 | 35.6 | 37.6 | |
| RDW (%) | 11.5–15.5 | – | 14.7 | – | 14.5 | 4.1 | 15 | 16.1 | 21.2 | 14.8 | 14.1 | — | 10.1 | |||||||
| Retics % | 0.5–2 | 6.5 | 12.2 | 11.8 | 17.7 | 6.3 | 12.6 | 6.7 | >22 | ND | ND | 6.44 | 1.98 | |||||||
| Retic absolute count (103/µl) | 20–80 | 254 | 403 | 358 | 450 | 229 | 255 | 263 | 249 | 363 | ND | ND | 155 | 71.6 | ||||||
(F) refers to female and (M) to male.