Table I.
Characteristics of Participants.
| Participants | Patients (N=118) | Relatives (N=202) | p# | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| FA N (%) |
DC N (%) |
DBA N (%) |
SDS N (%) |
Total N (%) |
p* | FA | DC | DBA | SDS | Total | p* | ||
| Number | 31 | 42 | 33 | 12 | 118 | 74 | 79 | 37 | 12 | 202 | |||
| Age, median range, yrs. | 170.4-57 | 171.5-71 | 112-58 | 122-42 | 15.40.4-71 | 0.2* | 424-77 | 364-69 | 342-62 | 4510-68 | 39.52-77 | 0.02* | 0.0001 |
| Male:Female | 9:22 | 33:9 | 21:12 | 7:5 | 70:48 | 35:39 | 31:48 | 18:19 | 6:6 | 90:112 | |||
| P for M:F@ | 0.03 | <0.001 | 0.2 | 0.8 | <0.001 | 0.7 | 0.07 | 1 | 1 | 0.7 | |||
| Any BMF$ | 16 (52) | 32 (76) | 22 (67) | 4 (33) | 74 (63) | 0.04 | 0 | 0 | 0 | 0 | 0 | ||
| Severe BMF | 6 (19) | 20 (48) | 22 (67) | 0 | 48 (41) | <0.001 | 0 | 0 | 0 | 0 | 0 | ||
| Cancer | 6 (19) | 3 (7) | 1 (3) | 0 | 10 (8) | 0.06 | 1 | 1 | |||||
| Prednisone Rx | 0 | 0 | 12 (36) | 0 | 12 (10) | <0.001 | 0 | 0 | 0 | 0 | 0 | ||
| Androgen Rx | 2 (6) | 5 (12) | 0 | 0 | 7 (6) | 0.1 | 0 | 0 | 0 | 0 | 0 | ||
| Transfusions | 3 (10) | 12 (29) | 10 (30) | 0 | 25 (21) | 0.2 | 0 | 0 | 0 | 0 | 0 | ||
| Any treatment | 4 (13) | 14 (33) | 20 (61) | 0 | 28 (24) | <0.001 | 0 | 0 | 0 | 0 | 0 | ||
FA, Fanconi anemia; DC, dyskeratosis congenita; DBA, Diamond-Blackfan anemia; SDS, Shwachman-Diamond syndrome; N, number; yrs., years; Rx, treatment.
*
Equality across the four syndromes (patient groups and relatives separately using Kruskal-Wallis analysis of variance);
#
Compares patient groups with combined relatives (Kruskal-Wallis).
@
Ratio of males to females (binomial distribution).
$
BMF: Any BMF: hemoglobin, neutrophil or platelet values below the normal for age; severe BMF: hemoglobin less than 8 g/dL, absolute neutrophil count less than 0.5×109/L, or platelets less than 30×109/L, or on treatment.