Table 1. Clinical characteristics of DBA patients (*patient in clinical remission; **two analysis performed in two independent samples; ┼three different analysis a few years apart; ▲two different analysis a few years apart).
The ranges of PB BFU-E BASAL and BM BFU-E BASAL of healthy individuals are 16.0+/-8.0 and 57.0+/-28, respectively. The normal range of e-ADA is 0,8–1,2 U/g Hb.
DBA PATIENTS | SEX | AGE | AGE AT ONSET | TREATMENT | Hb (g/dL) | MCV (fL) | RBC (10^6/uL) | Reticulocytes (10^9/L) | eADA (U/g Hb) | BM | BM BFU-E BASAL | BM BFU-E WITH SCF | PB BFU-E BASAL | PB BFU-E WITH SCF |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | M | 24 | 2 months | TRANSFUSION | 8.0 | 88.8 | 3.04 | 13.5 | 3.2 | ERYTHROID APLASIA | 0 | 46 | 0 | 1 |
2 | F | 43 | At birth | STEROIDS | 10.7 | 89.8 | 3.54 | N/D | 3.9 | ERYTHROID HYPOPLASIA | N/D | N/D | 1 | 7 |
3 | M | 7 | 1 month | TRANSFUSION | 6.8; 6.8** | 80.9; 70.8** | 2.34; 2.39** | 2.8; 5.1** | N/D | ERYTHROID HYPOPLASIA | 23 | 26 | 1 | 8 |
4 | M | 5 | 1 year | TRANSFUSION | 9.5 | 79.8 | 3.20 | 10.7 | N/D | ERYTHROID APLASIA | 0 | 0 | N/D | N/D |
5 | F | 27 | 2 months | NONE* | 10.9 | 83.8 | 3.78 | 45.8 | 5.3 | ERYTHROID APLASIA | 0 | 7 | N/D | N/D |
6 | F | 4 | At birth | TRANSFUSION | 9.6 | 82.1 | 3.36 | 6 | N/D | ERYTHROID APLASIA | 0; 5; 20┼ | 2; 74; 46┼ | 0; 0▲ | 0; 2▲ |
7 | M | 37 | 1 year | NONE* | 11.7 | 106.8 | 3.27 | 35.7 | 4.1 | ERYTHROID HYPOPLASIA | 7 | 41 | N/D | N/D |
8 | F | 5 | 6 months | TRANSFUSION | 6.2 | 81.8 | 2.12 | 11.6 | 2 | N/D | N/D | N/D | N/D | N/D |
9 | F | 17 | 3 months | STEROIDS | 11.5 | 99.6 | 3.30 | 42.8 | 2.6 | ERYTHROID APLASIA | 0; 5▲ | 62; 54▲ | N/D | N/D |
10 | M | 13 | 2 months | STEROIDS | 12.6 | 91.4 | 4.06 | 105.0 | 3.4 | ERYTHROID APLASIA | 12 | 89 | N/D | N/D |
11 | M | 12 | 2 months | TRANSFUSION | 9.0 | 81.9 | 3.20 | 17.7 | N/D | NORMAL | N/D | N/D | N/D | N/D |
12 | M | 20 | 1 year | NONE | 15.2 | 89.7 | 4.8 | 62.3 | 5 | ERYTHROID HYPOPLASIA | 0; 0▲ | 2; 52▲ | N/D | N/D |
13 | M | 25 | 4 months | TRANSFUSION | 10.1 | 85.6 | 3.4 | 45 | N/D | ERYTHROID APLASIA | N/D | N/D | N/D | N/D |