Management guidelines for inherited bone marrow failure syndromes.
| Syndrome . | When to Treat . | Pharmaceutical Treatment . | Transfusions . | Stem Cell Transplant . | Spontaneous Improvement . |
|---|---|---|---|---|---|
| Abbreviations: Hb, hemoglobin; ANC, absolute neutrophil count; G-CSF, granulocyte colony-stimulating factor. | |||||
| Fanconi Anemia | Hb < 8 g/dL, or ANC < 1000/mm3, or platelets < 30,000/mm3 | Androgens, usually oxymetholone 2–5 mg/kg/day. G-CSF ~5 μg/kg/day. | Packed red cells or platelets as needed | Bone marrow, or cord blood | Rare |
| Dyskeratosis Congenita | Hb < 8 g/dL, or ANC < 1000/mm3, or platelets < 30,000/mm3 | Androgens, usually oxymetholone 2–5 mg/kg/day. G-CSF ~5 μg/kg/day. | Packed red cells or platelets as needed | Bone marrow, or cord blood | Rare |
| Diamond-Blackfan Anemia | Hb < 8 g/dL | Prednisone, 2–5 mg/kg/day | Packed red cells | Bone marrow, or cord blood | ~25% |
| Shwachman- Diamond Syndrome | ANC < 1000/mm3 | G-CSF 5–10 μg/kg/day | Bone marrow, or cord blood | No | |
| Severe Congenital Neutropenia | ANC < 1000/mm3 | G-CSF 5–10 μg/kg/day | Bone marrow, or cord blood | No | |
| Thrombocytopenia Absent Radii | Platelets < 15,000/mm3 | None | Platelets as needed | Bone marrow, or cord blood | Most patients |
| Amegakaryocytic Thrombocytopenia | Hb < 8 g/dL, or ANC < 1000/mm3, or platelets < 30,000/mm3 | Androgens, usually oxymetholone 2–5 mg/kg/day. G-CSF ~5 μg/kg/day | Packed red cells or platelets as needed | Bone marrow, or cord blood | No |
| Syndrome . | When to Treat . | Pharmaceutical Treatment . | Transfusions . | Stem Cell Transplant . | Spontaneous Improvement . |
|---|---|---|---|---|---|
| Abbreviations: Hb, hemoglobin; ANC, absolute neutrophil count; G-CSF, granulocyte colony-stimulating factor. | |||||
| Fanconi Anemia | Hb < 8 g/dL, or ANC < 1000/mm3, or platelets < 30,000/mm3 | Androgens, usually oxymetholone 2–5 mg/kg/day. G-CSF ~5 μg/kg/day. | Packed red cells or platelets as needed | Bone marrow, or cord blood | Rare |
| Dyskeratosis Congenita | Hb < 8 g/dL, or ANC < 1000/mm3, or platelets < 30,000/mm3 | Androgens, usually oxymetholone 2–5 mg/kg/day. G-CSF ~5 μg/kg/day. | Packed red cells or platelets as needed | Bone marrow, or cord blood | Rare |
| Diamond-Blackfan Anemia | Hb < 8 g/dL | Prednisone, 2–5 mg/kg/day | Packed red cells | Bone marrow, or cord blood | ~25% |
| Shwachman- Diamond Syndrome | ANC < 1000/mm3 | G-CSF 5–10 μg/kg/day | Bone marrow, or cord blood | No | |
| Severe Congenital Neutropenia | ANC < 1000/mm3 | G-CSF 5–10 μg/kg/day | Bone marrow, or cord blood | No | |
| Thrombocytopenia Absent Radii | Platelets < 15,000/mm3 | None | Platelets as needed | Bone marrow, or cord blood | Most patients |
| Amegakaryocytic Thrombocytopenia | Hb < 8 g/dL, or ANC < 1000/mm3, or platelets < 30,000/mm3 | Androgens, usually oxymetholone 2–5 mg/kg/day. G-CSF ~5 μg/kg/day | Packed red cells or platelets as needed | Bone marrow, or cord blood | No |