Genotype-phenotype associations in 193 patients with pyruvate kinase deficiency
| . | NM/NM, N = 29, median (range) . | M/NM, N = 52, median (range) . | M/M, N = 112, median (range) . | P* . |
|---|---|---|---|---|
| Age at diagnosis, y | 0.4 (0-10.9) n = 29 | 0.7 (0-42.3) n = 50 | 1.3 (0-60.3) n = 106 | .049 |
| Hemoglobin, g/dL† | 7.9 (6.5-8.9) n = 14 | 8.4 (6.4-12.8) n = 21 | 8.9 (4.3-12.3) n = 41 | .006 |
| Total number of lifetime transfusions | 65 (3-363) n = 27 | 25 (1-516) n = 38 | 16 (1-486) n = 81 | .0015‡ |
| Maximum ferritin, ng/mL | 1787 (423-13409) n = 22 | 604 (22-8220) n = 37 | 573 (31-9679) n = 75 | <.0001‡ |
| Normalized PK enzyme activity, % | −41.6 (−152.4-15.2) n = 18 | −51.9 (−211.1-64.4) n=24 | −69.6 (−485.7-117.6) n = 60 | .16 |
| . | NM/NM, N = 29, median (range) . | M/NM, N = 52, median (range) . | M/M, N = 112, median (range) . | P* . |
|---|---|---|---|---|
| Age at diagnosis, y | 0.4 (0-10.9) n = 29 | 0.7 (0-42.3) n = 50 | 1.3 (0-60.3) n = 106 | .049 |
| Hemoglobin, g/dL† | 7.9 (6.5-8.9) n = 14 | 8.4 (6.4-12.8) n = 21 | 8.9 (4.3-12.3) n = 41 | .006 |
| Total number of lifetime transfusions | 65 (3-363) n = 27 | 25 (1-516) n = 38 | 16 (1-486) n = 81 | .0015‡ |
| Maximum ferritin, ng/mL | 1787 (423-13409) n = 22 | 604 (22-8220) n = 37 | 573 (31-9679) n = 75 | <.0001‡ |
| Normalized PK enzyme activity, % | −41.6 (−152.4-15.2) n = 18 | −51.9 (−211.1-64.4) n=24 | −69.6 (−485.7-117.6) n = 60 | .16 |
| . | NM/NM, n (%) . | M/NM, n (%) . | M/M, n (%) . | P§ . |
|---|---|---|---|---|
| Prenatal complications | 11/27 (41) | 15/48 (31) | 28/99 (28) | .44 |
| Exchange transfusion | 9/20 (45) | 17/41 (41) | 34/79 (43) | 1 |
| Rate of splenectomy in patients age ≥5 y | 21/21 (100) | 26/42 (62) | 48/88 (55) | <.0001 |
| Rate of cholecystectomy | 13/29 (45) | 25/52 (48) | 46/112 (41) | .69 |
| Extramedullary hematopoiesis | 3/25 (12) | 0/43 (0) | 5/93 (5) | .066 |
| Iron overload|| | 21/25 (84) | 20/38 (53) | 33/77 (43) | .0013‡ |
| Never transfused | 1/29 (3) | 9/51 (18) | 26/111 (23) | .036 |
| . | NM/NM, n (%) . | M/NM, n (%) . | M/M, n (%) . | P§ . |
|---|---|---|---|---|
| Prenatal complications | 11/27 (41) | 15/48 (31) | 28/99 (28) | .44 |
| Exchange transfusion | 9/20 (45) | 17/41 (41) | 34/79 (43) | 1 |
| Rate of splenectomy in patients age ≥5 y | 21/21 (100) | 26/42 (62) | 48/88 (55) | <.0001 |
| Rate of cholecystectomy | 13/29 (45) | 25/52 (48) | 46/112 (41) | .69 |
| Extramedullary hematopoiesis | 3/25 (12) | 0/43 (0) | 5/93 (5) | .066 |
| Iron overload|| | 21/25 (84) | 20/38 (53) | 33/77 (43) | .0013‡ |
| Never transfused | 1/29 (3) | 9/51 (18) | 26/111 (23) | .036 |
Amish patients with a homozygous R479H mutation were excluded from this analysis due to management differences, as these patients are typically uninsured and the cost of care can be prohibitive.
Kruskal-Wallis test.
Hemoglobin in the splenectomized, not regularly transfused cohort.
Statistically significant at P < .0055.
Fisher’s exact test.
Iron overload defined by maximum ferritin >1000 ng/mL, or the patient received chelation in prior 12 months.