Patient characteristics
| Patient . | Sex . | Age (y) . | Genetic variant . | Splenectomy . | Phlebotomy . | Iron chelation . | Hb (g/dL) . | Ret (%) . | MCHC (g/dL) . | Stomatocytes (%) . | Ferritin (μg/L) . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| P1∗ | M | 32 | PIEZO1 (c.6262C>G, p.Arg2088Gly) | No | Yes | No | 14.8 | 19.4 | 38.5 | 3.2 | 94 |
| P2† | F | 22 | PIEZO1 (c.7367G>A, p.Arg2456His) | Yes | No | No | 13.2 | 7.9 | 36.4 | 7.2 | 170 |
| P3†,∗ | M | 19 | PIEZO1 (c.7367G>A, p.Arg2456His) | No | No‡ | No | 16.6 | 19.8 | 36.4 | 1.9 | 107 |
| P4†,∗ | M | 48 | PIEZO1 (c.7367G>A, p.Arg2456His) | No | Yes | No | 9.8 | 11.0 | 32.9 | 2.5 | 17 |
| P5∗ | M | 18 | PIEZO1 (c.1792G>A, p.Val598Met) | Yes | No | No | 15.6 | 11.3 | 34.6 | 0.7 | 591 |
| P6† | F | 19 | PIEZO1 (c.7367G>A, p.Arg2456His) | No | No | No | 13.4 | 12.1 | 37.5 | 0.5 | 70 |
| P7† | F | 44 | PIEZO1 (c.7367G>A, p.Arg2456His) | No | Yes | No | 12.7 | 12.7 | 35.9 | 0.2 | 128 |
| P8† | F | 50 | PIEZO1 (c.7367G>A, p.Arg2456His) | No | Yes | No | 15.0 | 9.0 | 38.8 | 1.1 | 332 |
| P9† | F | 75 | PIEZO1 (c.7367G>A, p.Arg2456His) | No | Yes | No | 11.0 | 16.3 | 35.5 | 0.7 | 232 |
| P10 | M | 27 | PIEZO1 (c.6503_6508del, p.Lys2168_2169del) | No | No | No | 17.7 | 3.2 | 38.0 | 0.5 | 271 |
| P11∗ | F | 17 | PIEZO1 (c.7483_7488dupCTGGAG, p.Leu2495_Glu2496dup) | No | No | No | 10.0 | 11.2 | 36.9 | NA | 177 |
| P12∗ | M | 58 | PIEZO1 (c.6380C>T, p.Thr2127Met) | No | Yes | No | 16.6 | 1.7 | 33.8 | NA | 12 |
| P13§,∗ | F | 20 | KCNN4 (c.1055G>A, p.Arg352His) | No | No | No | 10.4 | 7.8 | 36.7 | 5.2 | 306 |
| P14§,∗ | M | 55 | KCNN4 (c.1055G>A, p.Arg352His) | No | No | No | 10.7 | 8.6 | 34.6 | 5.6 | 574 |
| P15∗ | M | 39 | KCNN4 (c.611C>G, p.Pro204Arg) | No | No | No | 13.0 | 7.8 | 34.2 | 1.2 | 639 |
| HCs | 7 F 3 M | 50 (26-67) | M: 16.1 (2.1) F: 14.3 (1.7) | 1.4 (0.7) | 34.6 (3.1) | 1.2 (2.0) | 21.0 (65.5) | ||||
| Reference range | M: 13.8-17.2 F: 11.9-15.5 | 1.0-2.0 | 30.6-37.1 | M: 25-250 F: 20-150 |
| Patient . | Sex . | Age (y) . | Genetic variant . | Splenectomy . | Phlebotomy . | Iron chelation . | Hb (g/dL) . | Ret (%) . | MCHC (g/dL) . | Stomatocytes (%) . | Ferritin (μg/L) . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| P1∗ | M | 32 | PIEZO1 (c.6262C>G, p.Arg2088Gly) | No | Yes | No | 14.8 | 19.4 | 38.5 | 3.2 | 94 |
| P2† | F | 22 | PIEZO1 (c.7367G>A, p.Arg2456His) | Yes | No | No | 13.2 | 7.9 | 36.4 | 7.2 | 170 |
| P3†,∗ | M | 19 | PIEZO1 (c.7367G>A, p.Arg2456His) | No | No‡ | No | 16.6 | 19.8 | 36.4 | 1.9 | 107 |
| P4†,∗ | M | 48 | PIEZO1 (c.7367G>A, p.Arg2456His) | No | Yes | No | 9.8 | 11.0 | 32.9 | 2.5 | 17 |
| P5∗ | M | 18 | PIEZO1 (c.1792G>A, p.Val598Met) | Yes | No | No | 15.6 | 11.3 | 34.6 | 0.7 | 591 |
| P6† | F | 19 | PIEZO1 (c.7367G>A, p.Arg2456His) | No | No | No | 13.4 | 12.1 | 37.5 | 0.5 | 70 |
| P7† | F | 44 | PIEZO1 (c.7367G>A, p.Arg2456His) | No | Yes | No | 12.7 | 12.7 | 35.9 | 0.2 | 128 |
| P8† | F | 50 | PIEZO1 (c.7367G>A, p.Arg2456His) | No | Yes | No | 15.0 | 9.0 | 38.8 | 1.1 | 332 |
| P9† | F | 75 | PIEZO1 (c.7367G>A, p.Arg2456His) | No | Yes | No | 11.0 | 16.3 | 35.5 | 0.7 | 232 |
| P10 | M | 27 | PIEZO1 (c.6503_6508del, p.Lys2168_2169del) | No | No | No | 17.7 | 3.2 | 38.0 | 0.5 | 271 |
| P11∗ | F | 17 | PIEZO1 (c.7483_7488dupCTGGAG, p.Leu2495_Glu2496dup) | No | No | No | 10.0 | 11.2 | 36.9 | NA | 177 |
| P12∗ | M | 58 | PIEZO1 (c.6380C>T, p.Thr2127Met) | No | Yes | No | 16.6 | 1.7 | 33.8 | NA | 12 |
| P13§,∗ | F | 20 | KCNN4 (c.1055G>A, p.Arg352His) | No | No | No | 10.4 | 7.8 | 36.7 | 5.2 | 306 |
| P14§,∗ | M | 55 | KCNN4 (c.1055G>A, p.Arg352His) | No | No | No | 10.7 | 8.6 | 34.6 | 5.6 | 574 |
| P15∗ | M | 39 | KCNN4 (c.611C>G, p.Pro204Arg) | No | No | No | 13.0 | 7.8 | 34.2 | 1.2 | 639 |
| HCs | 7 F 3 M | 50 (26-67) | M: 16.1 (2.1) F: 14.3 (1.7) | 1.4 (0.7) | 34.6 (3.1) | 1.2 (2.0) | 21.0 (65.5) | ||||
| Reference range | M: 13.8-17.2 F: 11.9-15.5 | 1.0-2.0 | 30.6-37.1 | M: 25-250 F: 20-150 |
Age, sex, genotypes, splenectomy status, phlebotomy status, and laboratory parameters are shown for 12 patients with PIEZO1-HX and 3 patients with KCNN4-HX included in this study. Median age (range) and median values (IQR) of 10 HCs are shown (n = 5 for ferritin, median values with IQR described). Reference range values of the routine diagnostic laboratory of University Medical Center Utrecht are also included.
F, female; Hb, hemoglobin; M, male; NA, not available; P, patient; Ret, reticulocytes.
Patients are included for the ex vivo incubations with the PK activator tebapivat.
Patients are related.
Patient was being phlebotomized when blood was drawn for ex vivo incubation.
Patients are related.