{"orpha":83642,"name":"Microcytic anemia with liver iron overload","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare constitutional anemia with liver iron overload characterized by severe hypochromic microcytic anemia present at birth and hepatic iron overload due to a defect in iron transport to erythroid cells. Patients are present with erythroid hyperplasia with signs of abnormal erythroid maturation, consistently high serum iron levels and serum transferrin receptors.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-83642/","orphanet_url":"https://www.orpha.net/en/disease/detail/83642","names":{"fr":{"name":"Anémie microcytaire avec surcharge hépatique en fer","definition":"Anémie constitutionnelle rare avec surcharge hépatique en fer, caractérisée par une anémie microcytaire hypochrome sévère, présente à la naissance, et une surcharge hépatique en fer due à un défaut de transport intra-érythrocytaire du fer. Les patients présentent une hyperplasie érythroïde avec des signes d'anomalies de maturation érythroïde et une persistance des taux sériques de fer et de récepteurs sériques de la transferrine élevés."},"de":{"name":"Mikrozytische Anämie mit hepatischer Eisenüberladung","definition":"Eine seltene konstitutionelle Anämie mit Eisenüberladung der Leber, die durch eine schwere hypochrome mikrozytäre Anämie bei der Geburt und eine Eisenüberladung der Leber aufgrund eines Defekts beim Eisentransport zu den Erythrozyten gekennzeichnet ist. Die Patienten weisen eine Erythrozytenhyperplasie mit Anzeichen einer abnormalen Erythrozytenreifung, konstant hohen Serumeisenspiegeln und Serumtransferrinrezeptoren auf."},"es":{"name":"Anemia microcítica con sobrecarga hepática de hierro","definition":"Se trata de una anemia constitucional poco frecuente con sobrecarga de hierro en el hígado, caracterizada por anemia microcítica hipocrómica grave presente al nacimiento y sobrecarga hepática de hierro debido a un defecto en el transporte de hierro a los eritrocitos. Los pacientes presentan hiperplasia eritroide con signos de alteración de la maduración eritroide, y elevación constante de los niveles de hierro sérico y de los receptores de transferrina."},"it":{"name":"Anemia microcitica associata a sovraccarico epatico di ferro"},"nl":{"name":"Microcytaire anemie met ijzerstapeling in lever","synonyms":["Microcytische anemie met ijzerstapeling in lever"],"definition":"Een zeldzame constitutionele anemie met ijzerstapeling in de lever, gekenmerkt door ernstige hypochrome microcytaire anemie aanwezig bij de geboorte en ijzerstapeling in de lever door een defect in ijzertransport naar erytroïde cellen. Patiënten vertonen erytroïde hyperplasie met verschijnselen van abnormale maturatie van rode bloedcellen, aanhoudend hoge serumgehaltes van ijzer en serumtransferrinereceptoren."},"pt":{"name":"Anemia microcítica com sobrecarga hepática de ferro"},"pl":{"name":"Niedokrwistość mikrocytarna z wątrobą przeciążoną żelazem","definition":"Rzadka anemia konstytucyjna z gromadzeniem żelaza w wątrobie, charakteryzująca się ciężką niedobarwliwą niedokrwistością mikrocytarną, stwierdzaną od urodzenia i nadmiernym gromadzeniem żelaza w wątrobie z powodu wady jego transportu do komórek linii erytrocytowej. U pacjentów obserwuje się hiperplazję erytrocytów z objawami ich nieprawidłowego dojrzewania, stale wysoki poziom żelaza w surowicy i receptory transferyny w surowicy."},"cs":{"name":"Mikrocytární anémie s přetížením jater železem"},"uk":{"name":"Мікроцитарна анемія з перевантаженням печінки залізом","definition":"A congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients."},"zh":{"name":"小红细胞贫血伴肝脏铁过载"},"tr":{"name":"Karaciğerde aşırı demir yükü ile seyreden mikrositik anemi"}},"xrefs":[{"source":"OMIM","code":"206100","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D50.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A00.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1532897638"},{"source":"MONDO","code":"0008787","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567144","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2673913","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12360","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":98360,"name":"Constitutional anemia due to iron metabolism disorder","classifications":[156,194]},{"orpha":309842,"name":"Disorder of iron metabolism and transport","classifications":[150,156]}],"children":[],"genes":[{"symbol":"SLC11A2","name":"solute carrier family 11 member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16160008[PMID]_16439678[PMID]","hgnc":"10908","ensembl":"ENSG00000110911","omim":"600523","loci":["12q13.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"16439678[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16439678[PMID]"}],"phenotypes":null}