Table 1 Clinical and biological data of the DBA patients
DBA | Sex | Mode of inheritance | Age at diagnosis (month) | Hb at diagnosis (g/dl) | Absolute retic count (giga/l) | eADA (nmoles/min/mg) | Congenital malformations | Treatment at the time of the study | Genotype |
|---|---|---|---|---|---|---|---|---|---|
1 | F | Sporadic | NA | NA | NA | 1.61 | Hypogammaglobulinemia, short stature | IT | RPS19+/− |
2 | F | Sporadic | 3 | 5.6 | NA | 3.6 | Short stature, prognatism, low hair implantation | T | RPS19+/− |
3 | M | Sporadic | 2 | 3.7 | 3 | 4.9 | Epicanthus, low hair implantation | C | RPS19+/− |
4 | F | Sporadic | 3.5 | 3.7 | 4 | 0.86 | Short stature, surdity, hip dysplasia | T | RPS19+/− |
5 | M | Sporadic | NA | NA | NA | NA | Heart, bones, epilepsia, hydrocephaly | T | RPS19+/− |
6 | F | Familial | 2 | 5 | <20 | Normal | No | NA | RPS19+/− |
7 | M | Familial | NA | NA | NA | NA | No | NA | RPS19+/− |
8 | M | Sporadic | 1.5 | 4.2 | 595 | NA | No | T | RPS19+/− |
9 | F | Sporadic | NA | NA | NA | NA | No | T | RPS19+/− |
10 | F | Sporadic | 2 | 4.5 | 12.5 | 3 | No | T | RPS19+/− |
11 | F | Sporadic | 1 | 3.9 | 4.56 | NA | Growth retardation | IT | RPS19+/− |
12 | F | Sporadic | 2 | 4.2 | 2 | NA | Diabetes, low implantation of the thumb | T | RPS19+/− |
13 | M | Sporadic | Birth | 9.5 | 15 | 4.93 | Spina bifida, dysimmunity, triphalangeal thumb | C | RPL11+/− |
14 | M | Sporadic | 3 | 3.3 | 5 | NA | Short stature, flat tenar | C | RPL11+/− |
15 | M | Sporadic | 1 | 6.4 | 9 | 6.15 | No | T | RPL11+/− |
