Clinical characteristics and laboratory profiles of patients with acquired aplastic anemia carrying SBDS gene mutations
| Patient . | Age, y . | Sex . | Race or ethnic group . | Hemoglobin, g/dL . | ANC, /μL . | Platelet count, 109/L . | BM cellularity, % . | Family history . | Course . |
|---|---|---|---|---|---|---|---|---|---|
| A | 19 | M | Hispanic | 6.2 | 300 | 10 | 10 | Mother with mild anemia | No response to immunosuppression; died after MUD BM transplantation |
| B | 5 | F | White | 6.9 | 600 | 12 | 10 | No | No response to immunosuppression; developed MDS, monosomy 7; died after MUD BM transplantation |
| C | 19 | M | Black | 3.3 | 400 | 4 | 5 | Mother with mild anemia (Hb, 11 g/dL; MCV, 89 fL) | Transient response to immunosuppression; responded to MR-PBSCT |
| D | 12 | M | Black | 5 | 200 | 20 | < 5 | Mother with mild anemia (Hb, 10.9 g/dL; MCV, 85 fL) | No response to immunosuppression |
| Patient . | Age, y . | Sex . | Race or ethnic group . | Hemoglobin, g/dL . | ANC, /μL . | Platelet count, 109/L . | BM cellularity, % . | Family history . | Course . |
|---|---|---|---|---|---|---|---|---|---|
| A | 19 | M | Hispanic | 6.2 | 300 | 10 | 10 | Mother with mild anemia | No response to immunosuppression; died after MUD BM transplantation |
| B | 5 | F | White | 6.9 | 600 | 12 | 10 | No | No response to immunosuppression; developed MDS, monosomy 7; died after MUD BM transplantation |
| C | 19 | M | Black | 3.3 | 400 | 4 | 5 | Mother with mild anemia (Hb, 11 g/dL; MCV, 89 fL) | Transient response to immunosuppression; responded to MR-PBSCT |
| D | 12 | M | Black | 5 | 200 | 20 | < 5 | Mother with mild anemia (Hb, 10.9 g/dL; MCV, 85 fL) | No response to immunosuppression |
ANC indicates absolute neutrophil count; BM, bone marrow; MUD, matched unrelated donor; MDS, myelodysplastic syndrome; MR-PBSCT, matched related peripheral blood stem cell transplantation.