Characteristic features of different types of CDA
| CDA type . | I . | II . | III Familial . | III Sporadic . | Variants . |
|---|---|---|---|---|---|
| Inheritance | Autosomal recessive | Autosomal recessive | Dominant | Variable | Autosomal dominant or X linked or recessive |
| Cases reported | >300 | >450 | 2 families | <20 | ∼70 |
| BM morphology (light microscopy) | Abnormal chromatin structure, chromatin bridges | Binuclearity, multinuclearity of mature erythroblasts | Giant multinucleated erythroblasts | Giant multinucleated erythroblasts | CDA I–like, CDA II–like, others |
| BM EM findings | “Spongy” heterochromatin, invagination of cytoplasm into the nucleus | Peripheral cysternae beneath the plasma membrane | Clefts in heterochromatin, autophagic vacuoles, intranuclear cisternae | Various | Various |
| Mutated gene | CDAN1, C15ORF41 | SEC23B | KIF23 | Unknown | KLF1, GATA-1, unknown |
| Associated dysmorphology/organ involvement | Skeleton | Variable, rare | Monoclonal gammopathy, myeloma, angioid streaks | Variable | CNS, others |
| CDA type . | I . | II . | III Familial . | III Sporadic . | Variants . |
|---|---|---|---|---|---|
| Inheritance | Autosomal recessive | Autosomal recessive | Dominant | Variable | Autosomal dominant or X linked or recessive |
| Cases reported | >300 | >450 | 2 families | <20 | ∼70 |
| BM morphology (light microscopy) | Abnormal chromatin structure, chromatin bridges | Binuclearity, multinuclearity of mature erythroblasts | Giant multinucleated erythroblasts | Giant multinucleated erythroblasts | CDA I–like, CDA II–like, others |
| BM EM findings | “Spongy” heterochromatin, invagination of cytoplasm into the nucleus | Peripheral cysternae beneath the plasma membrane | Clefts in heterochromatin, autophagic vacuoles, intranuclear cisternae | Various | Various |
| Mutated gene | CDAN1, C15ORF41 | SEC23B | KIF23 | Unknown | KLF1, GATA-1, unknown |
| Associated dysmorphology/organ involvement | Skeleton | Variable, rare | Monoclonal gammopathy, myeloma, angioid streaks | Variable | CNS, others |
CNS, central nervous system; EM, electron microscopy.