TABLE 1.
Regularly transfused cohort (n = 65) | Occasionally transfused cohort (n = 30) | Never transfused cohort (n = 27) | P value | ||
---|---|---|---|---|---|
Regularly transfused vs occasionally transfused cohorts | Regularly transfused vs never transfused cohorts | ||||
Male, n (%) | 30 (46.2) | 17 (56.7) | 16 (59.3) | .383 | .360 |
Mean (SD) age, y | 34.2 (11.0) | 39.5 (14.7) | 37.2 (16.3) | .083 | .383 |
White, n (%) | 63 (96.9) | 30 (100) | 27 (100) | >.999 | >.999 |
Hispanic or Latino, n (%) | 2 (3.1) | 1 (3.3) | 1 (3.7) | >.999 | >.999 |
Genotype, n (%) | .085 | .003 | |||
Amish R479H/R479H | 20 (30.8) | 4 (13.3) | 3 (11.1) | ||
Missense/missense | 21 (32.3) | 14 (46.7) | 19 (70.4) | ||
Missense/non‐missense | 11 (16.9) | 8 (26.7) | 5 (18.5) | ||
Non‐missense/non‐missense | 12 (18.5) | 2 (6.7) | 0 | ||
Other a | 1 (1.5) | 2 (6.7) | 0 |
The general population (n = 1220; data not shown) was age and sex matched to the pyruvate kinase deficiency population. The percent male and mean age across each transfusion cohort were identical to the pyruvate kinase deficiency population. Race, ethnicity, Amish status, and genotype were either not available or not applicable. For sex, race, and ethnicity, comparisons are based on a two‐tailed Fisher's exact test. For age, comparisons are based on a two‐sample t test. For genotype, comparisons are based on a chi‐square test.
Three patients could not be classified due to having three variants (n = 1) or due to having a promoter variant of uncertain significance (n = 2).