Description of the 12 DBA-affected patients who have been analyzed in this study
| DBA patients . | Sex . | Age* (mo) . | Hb* g/dL . | Reticulocyte count,* ×109/L . | eADA activity . | Mutated gene . | Malformations . | Treatment* . |
|---|---|---|---|---|---|---|---|---|
| UPN#987 | F | 2 | 4.2 | 2 | NA | RPS19 | Yes | T |
| Thumb anomaly | ||||||||
| UPN#251 | F | 6 | NA | NA | NA | RPS19 | No | TI |
| UPN#35 | F | 3 | 5.6 | NA | Increased | RPS19 | Yes | T |
| Hair anomaly | ||||||||
| Prognathism | ||||||||
| UPN#37 | M | 3 | 2.9 | 90 | Normal | RPS19 | No | T |
| UPN#412 | M | 2 | 7 | NA | Increased | RPL5 | Supernumerary thumb | TI |
| Hypoplasic thumb | ||||||||
| Flat thenar | ||||||||
| UPN#587 | M | Birth | 9.5 | 15 | Increased | RPL11 | Yes | S |
| Spina bifida | ||||||||
| Triphalangeal thumb | ||||||||
| Arnold Chiari | ||||||||
| UPN#172 | F | Birth | 4.5 | 23 | Increased | RPL11 | No | T |
| UPN#189 | F | 4 | 11.9 | 23 | Increased | RPL11 | Yes | S |
| Thumb anomaly | ||||||||
| UPN#1130 | M | NA | NA | NA | Increased | RPL11 | Yes | TI |
| Thumb anomaly | ||||||||
| Ear anomaly | ||||||||
| Surdity | ||||||||
| Ectopia testis | ||||||||
| UPN#479 | M | Birth | 6 | NA | Increased | RPL11 | Yes | T |
| Prematurity | ||||||||
| Triphalangeal thumb | ||||||||
| Hypospadias | ||||||||
| Heart malformation | ||||||||
| UPN#1099 | M | 1 | 6.4 | 9 | Increased | RPL11 | Yes | T |
| Hypoacousia | ||||||||
| Eye anomaly | ||||||||
| Multiple naevi | ||||||||
| UPN#412 | M | 2 | 7 | NA | Increased | RPL11 | Supernumerary thumb | TI |
| Hypoplasic thumb | ||||||||
| Flat thenar |
| DBA patients . | Sex . | Age* (mo) . | Hb* g/dL . | Reticulocyte count,* ×109/L . | eADA activity . | Mutated gene . | Malformations . | Treatment* . |
|---|---|---|---|---|---|---|---|---|
| UPN#987 | F | 2 | 4.2 | 2 | NA | RPS19 | Yes | T |
| Thumb anomaly | ||||||||
| UPN#251 | F | 6 | NA | NA | NA | RPS19 | No | TI |
| UPN#35 | F | 3 | 5.6 | NA | Increased | RPS19 | Yes | T |
| Hair anomaly | ||||||||
| Prognathism | ||||||||
| UPN#37 | M | 3 | 2.9 | 90 | Normal | RPS19 | No | T |
| UPN#412 | M | 2 | 7 | NA | Increased | RPL5 | Supernumerary thumb | TI |
| Hypoplasic thumb | ||||||||
| Flat thenar | ||||||||
| UPN#587 | M | Birth | 9.5 | 15 | Increased | RPL11 | Yes | S |
| Spina bifida | ||||||||
| Triphalangeal thumb | ||||||||
| Arnold Chiari | ||||||||
| UPN#172 | F | Birth | 4.5 | 23 | Increased | RPL11 | No | T |
| UPN#189 | F | 4 | 11.9 | 23 | Increased | RPL11 | Yes | S |
| Thumb anomaly | ||||||||
| UPN#1130 | M | NA | NA | NA | Increased | RPL11 | Yes | TI |
| Thumb anomaly | ||||||||
| Ear anomaly | ||||||||
| Surdity | ||||||||
| Ectopia testis | ||||||||
| UPN#479 | M | Birth | 6 | NA | Increased | RPL11 | Yes | T |
| Prematurity | ||||||||
| Triphalangeal thumb | ||||||||
| Hypospadias | ||||||||
| Heart malformation | ||||||||
| UPN#1099 | M | 1 | 6.4 | 9 | Increased | RPL11 | Yes | T |
| Hypoacousia | ||||||||
| Eye anomaly | ||||||||
| Multiple naevi | ||||||||
| UPN#412 | M | 2 | 7 | NA | Increased | RPL11 | Supernumerary thumb | TI |
| Hypoplasic thumb | ||||||||
| Flat thenar |
eADA, erythrocyte adenosine deaminase; F, female; Hb, hemoglobin; M, male; NA, not available; S, steroid; T, transfusion dependence; TI, therapeutic independence.
At diagnosis.