DBA genetic subtypes
| DBA subtype . | Approximate % of patients with DBA . | Chromosome location . | Gene product . | Exons . |
|---|---|---|---|---|
| Autosomal dominant | 25 | 19q13.2 | RPS19 | 6 |
| 10-20 | Various* | — | — | |
| 7 | 1p22.1 | RPL5 | 8 | |
| 7 | 12q13.2 | RPS26 | 4 | |
| 5 | 1p36.11 | RPL11 | 6 | |
| 3 | 3q29 | RPL35A | 5 | |
| 3 | 6q21.31 | RPS10 | 6 | |
| 2.4 | 10q22.3 | RPS24 | 9 | |
| 1 | 15q25.2 | RPS17 | 6 | |
| <1 | 3p24.2 | RPL15 | 5 | |
| <1 | 2p25.3 | RPS7 | 7 | |
| <1 | 19p13.2 | RPS28 | 4 | |
| <1 | 14q21.3 | RPS29 | 5 | |
| <1 | 17p13.1 | RPL26 | 4 | |
| <1 | 19p13.3 | RPS15 | 4 | |
| <1 | 1q21.3 | RPS27 | 4 | |
| <1 | 4p14 | RPL9 | 8 | |
| <1 | 19q13.33 | RPL18 | 7 | |
| <1 | 17q21.31 | RPL27 | 6 | |
| <1 | 2q11.2 | RPL31 | 5 | |
| X-linked recessive | <1 | Xp11.23 | GATA1 | 6 |
| <1 | Xp11.22 | TSR2 | 5 | |
| Uncharacterized | ∼25 | ? | ? | ? |
| DBA subtype . | Approximate % of patients with DBA . | Chromosome location . | Gene product . | Exons . |
|---|---|---|---|---|
| Autosomal dominant | 25 | 19q13.2 | RPS19 | 6 |
| 10-20 | Various* | — | — | |
| 7 | 1p22.1 | RPL5 | 8 | |
| 7 | 12q13.2 | RPS26 | 4 | |
| 5 | 1p36.11 | RPL11 | 6 | |
| 3 | 3q29 | RPL35A | 5 | |
| 3 | 6q21.31 | RPS10 | 6 | |
| 2.4 | 10q22.3 | RPS24 | 9 | |
| 1 | 15q25.2 | RPS17 | 6 | |
| <1 | 3p24.2 | RPL15 | 5 | |
| <1 | 2p25.3 | RPS7 | 7 | |
| <1 | 19p13.2 | RPS28 | 4 | |
| <1 | 14q21.3 | RPS29 | 5 | |
| <1 | 17p13.1 | RPL26 | 4 | |
| <1 | 19p13.3 | RPS15 | 4 | |
| <1 | 1q21.3 | RPS27 | 4 | |
| <1 | 4p14 | RPL9 | 8 | |
| <1 | 19q13.33 | RPL18 | 7 | |
| <1 | 17q21.31 | RPL27 | 6 | |
| <1 | 2q11.2 | RPL31 | 5 | |
| X-linked recessive | <1 | Xp11.23 | GATA1 | 6 |
| <1 | Xp11.22 | TSR2 | 5 | |
| Uncharacterized | ∼25 | ? | ? | ? |
Refers to large deletions in different DBA genes. Variants in EPO and CECR1/DADA2 can also produce DBA-like disease.