Table 1.
Clinical data of DBA patients
| Patient ID | Mutation | Age, y | Age at diagnosis, mo | eADA, U/g Hb | Congenital anomalies | Current status |
|---|---|---|---|---|---|---|
| R-1 | RPS17 (c.189-190delAG) | 28 | 12 | NA | Flat thenar eminence | TD |
| R-2 | RPL5 (c.189+1G>T) | 41 | 0 | NA | ASD | TD |
| R-3 | RPL35A (deletion 3q29) | 4 | 30 | 2.4 | None | TD/SD* |
| R-4 | RPS24 (c.371A>G) | 27 | 6 | NA | None | TD |
| R-5 | RPS17 (5′UTR_3′UTRdel) | 3 | 8 | 1.7 | None | SD |
| G-1 | GATA1 (c.332G>C) | 24 | 10 | NA | None | TD/SD† |
| G-2 | GATA1 (c.332G>C) | 29 | 0 | NA | None | TD |
| I-1 | Indeterminate | 13 | 2 | NA | ASD, short stature, triphalangeal thumbs | SD |
| I-2 | Indeterminate | 9 | 22 | 1.1 | None | TD |
| I-3 | Indeterminate | 5 | 2 | 2.17 | Possible ureter duplication anomaly | TD |
| I-4 | Indeterminate | 22 | 11 | 1.48 | None | Remission |
“NA” was used if the patient was too old or already transfusion dependent at the time of the study.
ASD, atrial septal defect; eADA, erythrocyte adenosine deaminase activity; ID, identification; NA, not applicable; SD, steroid dependent; TD, transfusion dependent.
*
Assayed initially when transfusion dependent and later after response to corticosteroids.
†
Transfusion dependent but treated with corticosteroids during the study period to increase the intertransfusion interval.