Description of the 4 probands affected by DBA
Proband . | Sex . | Age at diagnosis (mo) . | Inheritance . | Hb count at diagnosis (g/dL) . | Malformations . | Treatment at time of study . | RPS19 gene mutation . |
|---|---|---|---|---|---|---|---|
| 1 | F | 1 | S | 6.8 | SGA | S | Val15Phe |
| Thr55Met | |||||||
| 2 | F | 1 | S | 3.5 | SGA, deafness, hip hypoplasia | S + T | Gly127Gln |
| 3 | M | 1 | S | 6 | None | S + T | Arg56Gln |
| 4 | M | Birth | D | 10.1 | None | None | Arg62Trp |
Proband . | Sex . | Age at diagnosis (mo) . | Inheritance . | Hb count at diagnosis (g/dL) . | Malformations . | Treatment at time of study . | RPS19 gene mutation . |
|---|---|---|---|---|---|---|---|
| 1 | F | 1 | S | 6.8 | SGA | S | Val15Phe |
| Thr55Met | |||||||
| 2 | F | 1 | S | 3.5 | SGA, deafness, hip hypoplasia | S + T | Gly127Gln |
| 3 | M | 1 | S | 6 | None | S + T | Arg56Gln |
| 4 | M | Birth | D | 10.1 | None | None | Arg62Trp |
F indicates female; M, male; S, sporadic; D, dominant; SGA, small for gestational age; S, steroid; and S + T, partial response to steroid with transfusion dependence.