Demographic, laboratory, and clinical characteristics per disease
| . | HS (n = 24) . | PKD (n = 23) . | SCD (n = 15) . | β-thalassemia (n = 12) . | Other (n = 16)* . | Healthy controls (n = 10)† . |
|---|---|---|---|---|---|---|
| Males, % | 46 | 48 | 40 | 67 | 50 | 33 |
| Age, y | 47 (37-59) | 43 (29-48) | 30 (27-35) | 30 (27-39) | 50 (32-65) | |
| Iron chelator use, %‡ | 0 | 36 | 27 | 83 | 27 | 0 |
| Phlebotomies, %§ | 17 | 11 | 33 | 10 | 46 | 0 |
| Regular transfusions, % | 0 | 26 | 33 | 75 | 13 | 0 |
| Splenectomy, % | 42 | 65 | 7 | 75 | 20 | 0 |
| Total FGF23, RU/mL | 83 (64-113) | 74 (65-93) | 451 (153-616) | 169 (116-361) | 119 (78-179) | 77 (63-91) |
| iFGF23, pg/mL | 42 (40-52) | 37 (29-44) | 46 (29-50) | 51 (38-70) | 50 (44-55) | 45 (38-50) |
| EPO, IU/L | 13 (6-31) | 25 (17-32) | 32 (21-68) | 58 (38-137) | 30 (21-34) | 3 (3-4) |
| ERFE, ng/mL | 4 (2-22) | 14 (6-33) | 7 (5-12) | 62 (40-73) | 16 (11-40) | 1 (0-2) |
| Hemoglobin, g/dL | 13.5 (11.9-15.3) | 10.0 (8.2-12.1) | 9.8 (8.7-12.3) | 9.0 (8.1-9.7) | 13.1 (10.1-14.0) | 14.2 (13.7-15.7) |
| MCV, fL | 90 (88-93) | 104 (97-111) | 92 (84-112) | 80 (76-83) | 96 (81-103) | 90 (86-92) |
| Reticulocytes, ×109/L | 285 (143-489) | 552 (252-893) | 178 (107-260) | 142 (63-221) | 303 (96-630) | 59 (44-72) |
| Leukocytes, ×109/L | 6.6 (5.6-10.1) | 8.7 (6.9-10.0) | 7.8 (5.2-13.3) | 11.8 (8.6-13.9) | 6.5 (5.9-7.6) | 6.2 (4.7-8.0) |
| Platelets, ×109/L | 235 (185-407) | 417 (283-821) | 385 (318-481) | 595 (298-774) | 255 (184-447) | 266 (239-315) |
| Creatinine, μmol/L | 68 (62-81) | 63 (49-67) | 57 (44-76) | 49 (43-68) | 61 (55-70) | |
| CKD-EPI, mL/min/1.73 m2 | 97 (92-113) | 110 (105-120) | 139 (126-149) | 132 (117-146) | 107 (91-128) | |
| Calcium, μmol/L | 2.34 (2.26-2.36) | 2.38 (2.32-2.43) | 2.30 (2.23-2.36) | 2.32 (2.29-2.45) | 2.43 (2.31-2.48) | |
| Phosphate, μmol/L | NA | 1.00 (0.85-1.16) | 1.09 (0.84-1.26) | 1.28 (1.17-1.34) | 1.04 (0.94-1.22) | |
| 25-OH vitamin D, nmol/L | 49 (37-107) | 48 (28-69) | 34 (21-65) | 44 (20-51) | 64 (48-77) | |
| Ferritin, μg/L | 178 (104-266) | 521 (225-781) | 562 (62-481) | 591 (394-1300) | 147 (101-428) | |
| TSAT, % | 31 (25-38) | 47 (31-77) | 43 (25-74) | 92 (80-120) | 51 (23-68) | |
| CRP, mg/L | 1.1 (0.5-4.0) | 0.9 (0.7-1.8) | 5.4 (3.0-9.5) | 1.6 (0.6-6.9) | 2.4 (1.7-3.3) | |
| Total bilirubin, μmol/L | 28 (20-51) | 55 (43-83) | 31 (22-47) | 35 (33-77) | 28 (21-85) | |
| LD, IU/L | 200 (186-246) | 191 (164-347) | 313 (263-393) | 190 (153-284) | 209 (172-403) | |
| AST, IU/L | 24 (19-33) | 32 (27-43) | 38 (34-43) | 29 (20-37) | 26 (18-28) |
| . | HS (n = 24) . | PKD (n = 23) . | SCD (n = 15) . | β-thalassemia (n = 12) . | Other (n = 16)* . | Healthy controls (n = 10)† . |
|---|---|---|---|---|---|---|
| Males, % | 46 | 48 | 40 | 67 | 50 | 33 |
| Age, y | 47 (37-59) | 43 (29-48) | 30 (27-35) | 30 (27-39) | 50 (32-65) | |
| Iron chelator use, %‡ | 0 | 36 | 27 | 83 | 27 | 0 |
| Phlebotomies, %§ | 17 | 11 | 33 | 10 | 46 | 0 |
| Regular transfusions, % | 0 | 26 | 33 | 75 | 13 | 0 |
| Splenectomy, % | 42 | 65 | 7 | 75 | 20 | 0 |
| Total FGF23, RU/mL | 83 (64-113) | 74 (65-93) | 451 (153-616) | 169 (116-361) | 119 (78-179) | 77 (63-91) |
| iFGF23, pg/mL | 42 (40-52) | 37 (29-44) | 46 (29-50) | 51 (38-70) | 50 (44-55) | 45 (38-50) |
| EPO, IU/L | 13 (6-31) | 25 (17-32) | 32 (21-68) | 58 (38-137) | 30 (21-34) | 3 (3-4) |
| ERFE, ng/mL | 4 (2-22) | 14 (6-33) | 7 (5-12) | 62 (40-73) | 16 (11-40) | 1 (0-2) |
| Hemoglobin, g/dL | 13.5 (11.9-15.3) | 10.0 (8.2-12.1) | 9.8 (8.7-12.3) | 9.0 (8.1-9.7) | 13.1 (10.1-14.0) | 14.2 (13.7-15.7) |
| MCV, fL | 90 (88-93) | 104 (97-111) | 92 (84-112) | 80 (76-83) | 96 (81-103) | 90 (86-92) |
| Reticulocytes, ×109/L | 285 (143-489) | 552 (252-893) | 178 (107-260) | 142 (63-221) | 303 (96-630) | 59 (44-72) |
| Leukocytes, ×109/L | 6.6 (5.6-10.1) | 8.7 (6.9-10.0) | 7.8 (5.2-13.3) | 11.8 (8.6-13.9) | 6.5 (5.9-7.6) | 6.2 (4.7-8.0) |
| Platelets, ×109/L | 235 (185-407) | 417 (283-821) | 385 (318-481) | 595 (298-774) | 255 (184-447) | 266 (239-315) |
| Creatinine, μmol/L | 68 (62-81) | 63 (49-67) | 57 (44-76) | 49 (43-68) | 61 (55-70) | |
| CKD-EPI, mL/min/1.73 m2 | 97 (92-113) | 110 (105-120) | 139 (126-149) | 132 (117-146) | 107 (91-128) | |
| Calcium, μmol/L | 2.34 (2.26-2.36) | 2.38 (2.32-2.43) | 2.30 (2.23-2.36) | 2.32 (2.29-2.45) | 2.43 (2.31-2.48) | |
| Phosphate, μmol/L | NA | 1.00 (0.85-1.16) | 1.09 (0.84-1.26) | 1.28 (1.17-1.34) | 1.04 (0.94-1.22) | |
| 25-OH vitamin D, nmol/L | 49 (37-107) | 48 (28-69) | 34 (21-65) | 44 (20-51) | 64 (48-77) | |
| Ferritin, μg/L | 178 (104-266) | 521 (225-781) | 562 (62-481) | 591 (394-1300) | 147 (101-428) | |
| TSAT, % | 31 (25-38) | 47 (31-77) | 43 (25-74) | 92 (80-120) | 51 (23-68) | |
| CRP, mg/L | 1.1 (0.5-4.0) | 0.9 (0.7-1.8) | 5.4 (3.0-9.5) | 1.6 (0.6-6.9) | 2.4 (1.7-3.3) | |
| Total bilirubin, μmol/L | 28 (20-51) | 55 (43-83) | 31 (22-47) | 35 (33-77) | 28 (21-85) | |
| LD, IU/L | 200 (186-246) | 191 (164-347) | 313 (263-393) | 190 (153-284) | 209 (172-403) | |
| AST, IU/L | 24 (19-33) | 32 (27-43) | 38 (34-43) | 29 (20-37) | 26 (18-28) |
Unless otherwise indicated, data are median (interquartile range).
AST, aspartate transaminase; CRP, C-reactive protein; HS, hereditary spherocytosis; LD, lactate dehydrogenase; MCV, mean corpuscular volume; TSAT, transferrin saturation.
”Other” includes patients with Piezo-1–mutated hereditary xerocytosis (n = 8), other hemoglobinopathies (n = 6), and other enzymopathies (n = 2).
Not reported values were not available.
Iron chelator use was defined as prescription of an iron chelating agent during the last 12 months.
Phlebotomies apply to a regular phlebotomy scheme in the past.