Table I.
Population characteristics
| Patients | Relatives | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Diagnosis | DBA | FA | DC | SDS | Other* | Non-DBA | DBA | Non-DBA | P1 | P2 | P3 |
| No. of patients | 37 | 20 | 21 | 10 | 13 | 64 | 73 | 13 | |||
| Male: Female | 19:18 | 5:15§ | 17:4^§ | 5:5 | 6:7 | 33:31 | 32:41 | 2:11§ | 1 | 0.6 | 0.05 |
| Age (years) | |||||||||||
| median (range) | 13 (2–58) | 23.5 (4–56) | 19 (3–46) | 11.5 (5–42) | 15 (3–37) | 16 (3–56) | 31 (1–62) | 30 (3–64) | 0.4 | 0.1 | 0.03 |
| eADA level (iu/g of Hb) | |||||||||||
| mean ± SD | 1.58 ± 0.81 | 0.57 ± 0.27 | 0.56 ± 0.18 | 0.65 ± 0.25 | 0.59 ± 0.14 | 0.58 ± 0.21 | 0.61 ± 0.2 | 0.57 ± 0.15 | <0.001 | <0.001 | <0.001 |
| median (range) | 1.33 (0.65–4.62) | 0.53 (0.17–1.41) | 0.52 (0.36–1.07) | 0.64 (0.37–1.23) | 0.63 (0.38–0.85) | 0.54 (0.17–1.41) | 0.58 (0.26–1.49) | 0.55 (0.37–0.93) | |||
| No. of patients with eADA ≥ 1 iu/g of Hb (%) | 31 (84) | 1 (5) | 1 (5) | 1 (10) | 0 (0) | 3 (5) | 5 (7) | 0 (0) | <0.001 | <0.001 | <0.001 |
DBA, Diamond-Blackfan anaemia; FA, Fanconi anaemia; DC, dyskeratosis congenita; SDS, Shwachman-Diamond syndrome; eADA, erythrocyte adenosine deaminase; Hb, haemoglobin.
*
Includes: FA-like, DC-like, SDS-like, thrombocytopenia absent radii, and severe congenital neutropenia.
P1: DBA vs. Non-DBA patients. P2: DBA vs. DBA relatives, P3: DBA vs. Non-DBA relatives.
^
When analysed on individual basis this is statistically different from DBA patients.
§
There is a statistically significant difference between number of males and females in this population