Clinical data of patients with DBA studied
. | . | Age . | . | DBA phenotype . | . | . | . | Hematologic status . | . | . | . | Culture . | . | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UPN . | Sex . | At study, y . | At presentation . | Anomalies . | RPS19* . | Growth retardation† . | SR‡ . | Rx . | EADA level, U/g Hb§‖ . | Hb level, g/dL§ . | MCV, fl§ . | Culture used¶ . | Result, mean %# . | ||||||||
| 1 | M | 2 | 2 mo | – | ND | No | Pos | None, TI | 1.55 | 8.7 | 87 | A, B | 6.8 | ||||||||
| 2 | F | 16 | 8 mo | Face, thumb | ND | Yes | Pos → less | Pred, TI | 1.69 | 7.6 | 103 | C | 1.8 | ||||||||
| 3 | M | 20 | NK | – | ND | Yes | Neg | TD | NA | NA | NA | A | 0 | ||||||||
| 4 | F | 11 | 4 y | Thumb | ND | No | Neg | TD | NA | NA | NA | D | NE | ||||||||
| 5 | F | 10 | 3 mo | – | Gln12stop | No | Neg | TD | NA | NA | NA | D | NE | ||||||||
| 6 | F | 5 | birth | – | ND | No | Pos | None, TI | 2.58 | 9.7 | 86 | B, C | 1.2 | ||||||||
| 7 | M | 18 | 1 mo | Ears, renal | ND | Yes | Pos | Pred, TI | 1.3 | 8.9 | 126 | D | NE | ||||||||
| 8 | F | 11 | 3 mo | Deaf | ND | No | Pos → neg | TD | NA | NA | NA | A, B, D | 18.7 | ||||||||
| 9 | M | 2 | 6 wk | – | +4nt, –633 | No | Neg | TD | NA | NA | NA | A | 0 | ||||||||
| 10 | M | 8 | 3 wk | – | Arg56Gln | Yes | Neg | TD | NA | NA | NA | A, C | 3.9 | ||||||||
| 11 | M | 40 | birth | Deaf | ND | Yes | Pos → neg | TD | NA | NA | NA | A | 0 | ||||||||
| 12 | M | 0.2 | 34/40** | – | intron 2 splice site | Yes | NS | TD | NA | NA | NA | A, C | 8.9 | ||||||||
| 13 | F | 19 | 7 mo | – | ND | No | NT | None, TI | 1.79 | 8.9 | 103 | C, D | 6.1 | ||||||||
| 14 | M | 13 | 6 mo | – | ND | Yes | Pos → neg | TD | NA | NA | NA | A, B | 17.9 | ||||||||
| 15 | M | 10 | 1 mo | Toenail | +2nt 344/5 | Yes | Neg | TD | NA | NA | NA | A, B | 2.9 | ||||||||
| 16 | F | 2 | 15 mo | – | ND | No | NT | None, TI | 1.65 | 6.8 | 111 | D | NE | ||||||||
| 17 | F | 29 | NK | – | ND | Yes | Pos → neg | Pred, Tx | NA | NA | NA | D | NE | ||||||||
| 18 | M | 35 | 3 mo | – | ND | Yes | Pos → neg | Pred, Tx | NA | NA | NA | D | NE | ||||||||
| 19 | M | 36 | NK | – | NT | Yes | Pos → neg | TD | NA | NA | NA | A | 0 | ||||||||
| 20 | M | 5 | 4 y | – | ND | No | NT | TD | NA | NA | NA | C, D | 1.8 | ||||||||
| 21 | M | 5 | 4 mo | – | ND | No | Pos | Pred, TI | NT | NT | NT | A, B | 11.4 | ||||||||
| 22 | F | 5 | 2 mo | – | ND | No | Pos → neg | TD | NA | NA | NA | A | 14.8 | ||||||||
| 23 | F | 33 | 2 y | Feet | ND | Yes | Pos | Pred, TI | 3.64 | 8.4 | 103 | A | 0 | ||||||||
| 24 | F | 8 | 34/40 | Face, thumb | ND | Yes | Neg | TD | NA | NA | NA | A, C | 2.7 | ||||||||
| 25 | F | 5 | 11 mo | ASD | ND | No | Pos | Pred, TI | 1.18 | 11.8 | 101 | A, C, D | 4.5 | ||||||||
| 26 | M | 3 | 1 mo | – | ND | No | Pos | Pred, TI | 1.62 | 10.6 | 94 | A, B, C, D | 7.7 | ||||||||
| 27 | F | 4 | 2 wk | face | ND | Yes | Pos | None, TI | 0.86 | NT | NT | C | 3.6 | ||||||||
| 28 | F | 14 | 6 wk | – | ND | Yes | Neg | TD | NA | NA | NA | A, C | 3.5 | ||||||||
| 29 | M | 1 | birth | Cleft palate | ND | Yes | Neg | TD | NA | NA | NA | A, D | 0 | ||||||||
| 30 | M | 17 | 1 mo | Face | ND | Yes | Pos → neg | Pred, Tx | NA | NA | NA | D | NE | ||||||||
| 31 | F | 31 | NK | – | ND | Yes | Pos → neg | TD | NA | NA | NA | A, C, D | 11 | ||||||||
| 32 | F | 32 | 2 mo | – | ND | Yes | Pos | Pred, TI | 2.01 | 9.1 | 102 | C, D | 6.1 | ||||||||
| 33 | M | 3 | 3 mo | – | ND | No | Neg | TD | NA | NA | NA | D | NE | ||||||||
. | . | Age . | . | DBA phenotype . | . | . | . | Hematologic status . | . | . | . | Culture . | . | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UPN . | Sex . | At study, y . | At presentation . | Anomalies . | RPS19* . | Growth retardation† . | SR‡ . | Rx . | EADA level, U/g Hb§‖ . | Hb level, g/dL§ . | MCV, fl§ . | Culture used¶ . | Result, mean %# . | ||||||||
| 1 | M | 2 | 2 mo | – | ND | No | Pos | None, TI | 1.55 | 8.7 | 87 | A, B | 6.8 | ||||||||
| 2 | F | 16 | 8 mo | Face, thumb | ND | Yes | Pos → less | Pred, TI | 1.69 | 7.6 | 103 | C | 1.8 | ||||||||
| 3 | M | 20 | NK | – | ND | Yes | Neg | TD | NA | NA | NA | A | 0 | ||||||||
| 4 | F | 11 | 4 y | Thumb | ND | No | Neg | TD | NA | NA | NA | D | NE | ||||||||
| 5 | F | 10 | 3 mo | – | Gln12stop | No | Neg | TD | NA | NA | NA | D | NE | ||||||||
| 6 | F | 5 | birth | – | ND | No | Pos | None, TI | 2.58 | 9.7 | 86 | B, C | 1.2 | ||||||||
| 7 | M | 18 | 1 mo | Ears, renal | ND | Yes | Pos | Pred, TI | 1.3 | 8.9 | 126 | D | NE | ||||||||
| 8 | F | 11 | 3 mo | Deaf | ND | No | Pos → neg | TD | NA | NA | NA | A, B, D | 18.7 | ||||||||
| 9 | M | 2 | 6 wk | – | +4nt, –633 | No | Neg | TD | NA | NA | NA | A | 0 | ||||||||
| 10 | M | 8 | 3 wk | – | Arg56Gln | Yes | Neg | TD | NA | NA | NA | A, C | 3.9 | ||||||||
| 11 | M | 40 | birth | Deaf | ND | Yes | Pos → neg | TD | NA | NA | NA | A | 0 | ||||||||
| 12 | M | 0.2 | 34/40** | – | intron 2 splice site | Yes | NS | TD | NA | NA | NA | A, C | 8.9 | ||||||||
| 13 | F | 19 | 7 mo | – | ND | No | NT | None, TI | 1.79 | 8.9 | 103 | C, D | 6.1 | ||||||||
| 14 | M | 13 | 6 mo | – | ND | Yes | Pos → neg | TD | NA | NA | NA | A, B | 17.9 | ||||||||
| 15 | M | 10 | 1 mo | Toenail | +2nt 344/5 | Yes | Neg | TD | NA | NA | NA | A, B | 2.9 | ||||||||
| 16 | F | 2 | 15 mo | – | ND | No | NT | None, TI | 1.65 | 6.8 | 111 | D | NE | ||||||||
| 17 | F | 29 | NK | – | ND | Yes | Pos → neg | Pred, Tx | NA | NA | NA | D | NE | ||||||||
| 18 | M | 35 | 3 mo | – | ND | Yes | Pos → neg | Pred, Tx | NA | NA | NA | D | NE | ||||||||
| 19 | M | 36 | NK | – | NT | Yes | Pos → neg | TD | NA | NA | NA | A | 0 | ||||||||
| 20 | M | 5 | 4 y | – | ND | No | NT | TD | NA | NA | NA | C, D | 1.8 | ||||||||
| 21 | M | 5 | 4 mo | – | ND | No | Pos | Pred, TI | NT | NT | NT | A, B | 11.4 | ||||||||
| 22 | F | 5 | 2 mo | – | ND | No | Pos → neg | TD | NA | NA | NA | A | 14.8 | ||||||||
| 23 | F | 33 | 2 y | Feet | ND | Yes | Pos | Pred, TI | 3.64 | 8.4 | 103 | A | 0 | ||||||||
| 24 | F | 8 | 34/40 | Face, thumb | ND | Yes | Neg | TD | NA | NA | NA | A, C | 2.7 | ||||||||
| 25 | F | 5 | 11 mo | ASD | ND | No | Pos | Pred, TI | 1.18 | 11.8 | 101 | A, C, D | 4.5 | ||||||||
| 26 | M | 3 | 1 mo | – | ND | No | Pos | Pred, TI | 1.62 | 10.6 | 94 | A, B, C, D | 7.7 | ||||||||
| 27 | F | 4 | 2 wk | face | ND | Yes | Pos | None, TI | 0.86 | NT | NT | C | 3.6 | ||||||||
| 28 | F | 14 | 6 wk | – | ND | Yes | Neg | TD | NA | NA | NA | A, C | 3.5 | ||||||||
| 29 | M | 1 | birth | Cleft palate | ND | Yes | Neg | TD | NA | NA | NA | A, D | 0 | ||||||||
| 30 | M | 17 | 1 mo | Face | ND | Yes | Pos → neg | Pred, Tx | NA | NA | NA | D | NE | ||||||||
| 31 | F | 31 | NK | – | ND | Yes | Pos → neg | TD | NA | NA | NA | A, C, D | 11 | ||||||||
| 32 | F | 32 | 2 mo | – | ND | Yes | Pos | Pred, TI | 2.01 | 9.1 | 102 | C, D | 6.1 | ||||||||
| 33 | M | 3 | 3 mo | – | ND | No | Neg | TD | NA | NA | NA | D | NE | ||||||||
All data for DBA phenotype and hematologic status refer to time of study, unless otherwise specified.
UPN indicates unique patient number; SR, steroid response; Rx, treatment status; Hb, hemoglobin; MCV, mean cell volume; –, none; ND, none detected; Pos, positive; TI, transfusion-independent; pred, on prednisolone; NK, not known; Neg, negative; TD, transfusion dependent; NA, not applicable; NE, not eligible; NT, not tested; Tx, intermittent transfusions; NS/NR, no steroids/nonresponsive; ASD, atrial septal defect.
Results of RPS19 mutation analysis11
Defined as height below the third percentile for age
Response to initial course of steroids. Pos indicates patient achieved transfusion independence; neg, patient did not achieve transfusion independence; pos → neg, initial response became refractory; pos → less, patient was still responsive but required increasing doses; NS/NR, patients had not received steroids by time of study, and was subsequently found to be nonresponsive
NA used if patient was transfusion dependent at time of study or (for eADA results) had had a recent transfusion
Normal range (mean + 2 standard deviations), up to 1.01 U/g Hb11
For each patient, cultures used to study that patient are indicated as follows: A, 5637-conditioned medium (CM) (Figure 1A); B, serum-containing medium with recombinant cytokines instead of CM (Figure 1B); C, serum-free medium with recombinant cytokines with or without dexamethasone (Figures 2 and 5); D, clonogenic medium (Figure 3)
Erythroid output at day 7 of phase 2 liquid culture (2 U/mL Epo, no dexamethasone), expressed as percentage of normal mean result for the same culture conditions. NE was used for patients studied with phase 2 clonogenic assay only
34/40 indicates 34 weeks' gestation