Sideroblastic anemia
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, Not applicable, X-linked dominant, X-linked recessive
- Age of onset
- All ages
- Status
- active
Sideroblastic anemias (SA) are a group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias. The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sideroblastic anemia | |
| fr | Anémie sidéroblastique | |
| de | Anämie, sideroachrestische | Anämie, sideroblastische |
| es | Anemia sideroblástica | |
| it | Anemia sideroblastica | |
| nl | Sideroblastische anemie | |
| pt | Anemia sideroblástica | |
| pl | Niedokrwistość syderoblastyczna | |
| cs | Sideroblastická anémie | |
| uk | Сидеробластна анемія | |
| zh | 铁粒幼细胞性贫血 | |
| tr | Sideroblastik anemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 182170 | BTNT | validated | |
| OMIM | 205950 | BTNT | validated | |
| OMIM | 300751 | BTNT | validated | |
| OMIM | 619523 | BTNT | validated | |
| MONDO | 0015194 | E | validated | |
| MONDO | 15194 | E | validated | |
| MeSH | D000756 | E | validated | |
| UMLS | C0002896 | E | validated | |
| MedDRA | 10040661 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:108997Rare anemia
rare hematological diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1047
- This record as JSON: /data/d/1047.json