Phenotypes associated with the disease autosomal dominant sideroblastic anemia (OMIM:182170):
- Refractory anemia with ringed sideroblasts (HP:0004828): A type of myelodysplastic syndrome characterized by less than 5% myeloblasts in the bone marrow, but with 15% or greater red cell precursors in the marrow being abnormal iron-stuffed cells called ringed sideroblasts. Evidence: PCS. (PMID:3653362)
- Abnormal erythrocyte morphology (HP:0001877): Any structural abnormality of erythrocytes (red-blood cells). Evidence: PCS. (PMID:3653362)
- Sideroblastic anemia (HP:0001924): Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining). Evidence: PCS. (PMID:26491070)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:26491070)