Clinical characteristics of the multicase DBA family members tested for an RPS29 mutation
| Patient . | Relationship . | Gender . | Age* (y) . | Diagnosis . | Age at anemia . | Initial hematopoietic symptoms . | Other clinical features . | Treatment† . | Hb (g/dL) . | MCV (fL) . | HbF (%) . | EPO (mIU/mL) . | eADA (IU/g Hb) . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Family NCI-193 | |||||||||||||
| III-3 | Proband | Male | 58 | DBA | 9 y | Steroid responsive at age 9; complete remission until age 55 | No dysmorphology; SCC lung at age 56 (smoker); S/P surgery/chemotherapy; anemia relapse after chemotherapy | Low-dose prednisone | 14.7 | 101 | <1 | 32.9 | 0.84 |
| III-6 | Sibling | Female | 56 | Asymptomatic; OC | None | None | None | N/A | 13.4 | 86.6 | <1 | 23.4 | 1.11 |
| IV-4 | Niece | Female | 30 | DBA | 3 y | RBC transfusion followed by prednisone; complete remission since age 5 | No dysmorphology | None | 13.2 | 89.5 | <1 | 24.2 | 1.68 |
| III-2 | First cousin | Female | 46 | DBA | 3 mo | Steroid responsive; relapsed with pregnancy, treated with prednisone and RBC transfusions; in remission since age 24 | Congenital aortic stenosis; Sprengel deformity | None | 13.8 | 92.8 | <1 | 35 | 1.68 |
| IV-2 | Nephew (III-2’s son) | Male | 26 | DBA | 18 mo | Prednisone refractory, RBC transfusion dependent, iron overload; S/P MUD BMT age 27 | Iron overload; avascular necrosis of right hip and shoulder | RBC transfusions | Transfused | Transfused | <1 | 2252 | Transfused |
| IV-3 | Nephew (III-2’s son) | Male | 21 | DBA | 3 y | Off transfusion and in complete remission since age 4.5 | Congenital ptosis | None | 15.6 | 94.5 | <1 | 16.6 | 1.28 |
| III-7 | Sibling’s husband | Male | 56 | Not in the bloodline | None | None | None | N/A | N/A | N/A | N/A | N/A | 0.71 |
| Family NCI-38 | |||||||||||||
| III-3 | Proband | Male | 25 | DBA | 2 y | Steroid responsive; off treatment and in complete remission from age 4 | No dysmorphology; H/O recurrent bilateral shoulder joint dislocation | None | 15.3 | 91.1 | 0.4 | 10.5 | 1.26 |
| III-4 | Sibling | Female | 28 | Unaffected | None | None | None | N/A | 13.4 | 85 | N/A | N/A | 0.68 |
| III-2 | Half-sibling | Female | 21 | Asymptomatic | None | None | No dysmorphology; iron deficiency at the time of testing | N/A | 12.2 | 76.3 | 0 | 16.2 | 1.0 |
| III-5 | Half-sibling | Male | 10 | Unaffected | None | None | None | N/A | 12.3 | 87 | 0 | 7.4 | 0.63 |
| III-6 | Half-sibling | Male | 7 | Unaffected | None | None | H/O joint hypermobility and recurrent knee joint dislocation | N/A | 13.2 | 86.2 | 0.5 | 8.7 | 0.54 |
| II-6 | Mother | Female | 44 | Asymptomatic; OC | None | None | No dysmorphology; H/O recurrent patellar dislocation | N/A | 13.4 | 94.1 | 0 | 9.7 | 0.8 |
| Patient . | Relationship . | Gender . | Age* (y) . | Diagnosis . | Age at anemia . | Initial hematopoietic symptoms . | Other clinical features . | Treatment† . | Hb (g/dL) . | MCV (fL) . | HbF (%) . | EPO (mIU/mL) . | eADA (IU/g Hb) . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Family NCI-193 | |||||||||||||
| III-3 | Proband | Male | 58 | DBA | 9 y | Steroid responsive at age 9; complete remission until age 55 | No dysmorphology; SCC lung at age 56 (smoker); S/P surgery/chemotherapy; anemia relapse after chemotherapy | Low-dose prednisone | 14.7 | 101 | <1 | 32.9 | 0.84 |
| III-6 | Sibling | Female | 56 | Asymptomatic; OC | None | None | None | N/A | 13.4 | 86.6 | <1 | 23.4 | 1.11 |
| IV-4 | Niece | Female | 30 | DBA | 3 y | RBC transfusion followed by prednisone; complete remission since age 5 | No dysmorphology | None | 13.2 | 89.5 | <1 | 24.2 | 1.68 |
| III-2 | First cousin | Female | 46 | DBA | 3 mo | Steroid responsive; relapsed with pregnancy, treated with prednisone and RBC transfusions; in remission since age 24 | Congenital aortic stenosis; Sprengel deformity | None | 13.8 | 92.8 | <1 | 35 | 1.68 |
| IV-2 | Nephew (III-2’s son) | Male | 26 | DBA | 18 mo | Prednisone refractory, RBC transfusion dependent, iron overload; S/P MUD BMT age 27 | Iron overload; avascular necrosis of right hip and shoulder | RBC transfusions | Transfused | Transfused | <1 | 2252 | Transfused |
| IV-3 | Nephew (III-2’s son) | Male | 21 | DBA | 3 y | Off transfusion and in complete remission since age 4.5 | Congenital ptosis | None | 15.6 | 94.5 | <1 | 16.6 | 1.28 |
| III-7 | Sibling’s husband | Male | 56 | Not in the bloodline | None | None | None | N/A | N/A | N/A | N/A | N/A | 0.71 |
| Family NCI-38 | |||||||||||||
| III-3 | Proband | Male | 25 | DBA | 2 y | Steroid responsive; off treatment and in complete remission from age 4 | No dysmorphology; H/O recurrent bilateral shoulder joint dislocation | None | 15.3 | 91.1 | 0.4 | 10.5 | 1.26 |
| III-4 | Sibling | Female | 28 | Unaffected | None | None | None | N/A | 13.4 | 85 | N/A | N/A | 0.68 |
| III-2 | Half-sibling | Female | 21 | Asymptomatic | None | None | No dysmorphology; iron deficiency at the time of testing | N/A | 12.2 | 76.3 | 0 | 16.2 | 1.0 |
| III-5 | Half-sibling | Male | 10 | Unaffected | None | None | None | N/A | 12.3 | 87 | 0 | 7.4 | 0.63 |
| III-6 | Half-sibling | Male | 7 | Unaffected | None | None | H/O joint hypermobility and recurrent knee joint dislocation | N/A | 13.2 | 86.2 | 0.5 | 8.7 | 0.54 |
| II-6 | Mother | Female | 44 | Asymptomatic; OC | None | None | No dysmorphology; H/O recurrent patellar dislocation | N/A | 13.4 | 94.1 | 0 | 9.7 | 0.8 |
Abnormal values are indicated in bold. MCV: normal range for adults 80-100 fL; eADA normal range <0.96 11 IU/g Hb; EPO normal range 3.7-31.5 mIU/mL.
EPO, erythropoietin; HbF, fetal hemoglobin; H/O, history of; MCV, mean corpuscular volume; MUD BMT, matched unrelated donor bone marrow transplant; N/A, not applicable; OC, obligate carrier (see text); S/P, status-post; SCC, squamous cell cancer.
Age at study entry.
Treatment at the time of the study.