{"orpha":1047,"name":"Sideroblastic anemia","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1047/","orphanet_url":"https://www.orpha.net/en/disease/detail/1047","names":{"fr":{"name":"Anémie sidéroblastique","definition":"Les anémies sidéroblastiques constituent un groupe hétérogène d'anomalies rares de la moelle osseuse pouvant être héréditaires ou acquises, et être isolées ou faire partie d'un syndrome. Elles se caractérisent par une diminution de la synthèse d'hémoglobine due à un défaut de l'utilisation du fer (bien que les taux de fer plasmatique puissent être normaux ou élevés) et par la présence de sidéroblastes en couronne dans la moelle osseuse due à une accumulation pathologique de fer dans les mitochondries, ce qui est visualisable avec la coloration de Perls. Le groupe comprend l'anémie sidéroblastique idiopathique acquise et les anémies sidéroblastiques constitutionnelles. Ces dernières incluent des anémies sidéroblastiques syndromiques (telles que le syndrome de Pearson, la myopathie mitochondriale et anémie sidéroblastique, l'anémie sidéroblastique liée à l'X et ataxie, l'anémie mégaloblastique thiamine-dépendante), et des anémies sidéroblastiques non syndromiques (incluant l'anémie sidéroblastique liée à l'X et l'anémie sidéroblastique autosomique récessive)."},"de":{"name":"Anämie, sideroachrestische","synonyms":["Anämie, sideroblastische"]},"es":{"name":"Anemia sideroblástica","definition":"Es un grupo de trastornos poco frecuentes, heterogéneos, hereditarios o adquiridos, de la médula ósea, aislados o como parte de un síndrome, caracterizado por una disminución de la síntesis de hemoglobina, debido a una utilización defectuosa del hierro (aunque los niveles de hierro plasmático pueden ser normales o elevados) y la presencia de sideroblastos anillados en la médula ósea debido a la sobrecarga patológica de hierro en las mitocondrias, tal como se visualiza mediante la tinción de Perls. El grupo abarca la anemia sideroblástica adquirida (idiopática) y las anemias sideroblásticas constitucionales. Estas últimas incluyen las anemias sideroblásticas sindrómicas como el síndrome de Pearson, la miopatía mitocondrial y las anemias sideroblásticas, la anemia sideroblástica-ataxia ligada al cromosoma X, el síndrome de anemia megaloblástica sensible a la tiamina y la anemias sideroblásticas no sindrómicas, que comprenden la anemias sideroblásticas autosómicas recesivas y las ligadas al cromosoma X."},"it":{"name":"Anemia sideroblastica"},"nl":{"name":"Sideroblastische anemie","definition":"Sideroblastische anemieën (SA) zijn een groep van zeldzame, heterogene, geërfde of verworven aandoeningen van het beenmerg die geïsoleerd of als onderdeel van een syndroom kunnen voorkomen, en gekarakteriseerd worden door een verminderde synthese van hemoglobine wegens een gebrekkig gebruik van ijzer (hoewel ijzergehaltes in het plasma normaal of verhoogd kunnen zijn) en door de aanwezigheid bij Perlskleuring van geringde sideroblasten in het beenmerg als gevolg van pathologische verzadiging van de mitochondriën met ijzer. De groep omvat (idiopathische) verworven sideroblastische anemie en constitutionele sideroblastische anemieën (zie deze termen). Deze laatsten omvatten syndromale sideroblastische anemieën zoals Pearsonsyndroom, mitochondriale myopathie en sideroblastische anemieën, X-gebonden sideroblastische anemie en ataxie, thiamineresponsieve megaloblastische anemie-syndroom en niet-syndromale sideroblastische anemieën waaronder X-gebonden en autosomaal recessieve sideroblastische anemieën (zie deze termen)."},"pt":{"name":"Anemia sideroblástica"},"pl":{"name":"Niedokrwistość syderoblastyczna"},"cs":{"name":"Sideroblastická anémie"},"uk":{"name":"Сидеробластна анемія","definition":"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 (see these terms). 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 (see these terms)."},"zh":{"name":"铁粒幼细胞性贫血"},"tr":{"name":"Sideroblastik anemi"}},"xrefs":[{"source":"OMIM","code":"182170","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"205950","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"300751","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619523","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"MONDO","code":"0015194","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"15194","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000756","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0002896","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10040661","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":108997,"name":"Rare anemia","classifications":[194]}],"children":[{"orpha":75564,"name":"Acquired idiopathic sideroblastic anemia","type":"Disease"},{"orpha":98362,"name":"Constitutional sideroblastic anemia","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Mitochondrial inheritance","Not applicable","X-linked dominant","X-linked recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}