{"orpha":232,"name":"Sickle cell anemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Homozygous hemoglobin S","Homozygous sickle cell anemia SS"],"definition":"A severe form of sickle cell disease (SCD) characterized by homozygosity for the sickle hemoglobin (HbS) gene and which acutely manifests with severe anemia, susceptibility to severe bacterial infections, and ischemic vasoocclusive accidents (VOA). It is a red cell disease of genetic origin which manifests with hemolytic disease and loss of red cell deformability leading to other occlusive events.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-232/","orphanet_url":"https://www.orpha.net/en/disease/detail/232","names":{"fr":{"name":"Drépanocytose","synonyms":["Anémie à hématies falciformes","Drépanocytose homozygote SS"],"definition":"Forme grave de drépanocytose caractérisée par l'homozygotie pour le gène de l'hémoglobine drépanocytaire (HbS) et qui se manifeste de manière aiguë par une anémie sévère, une sensibilité aux infections bactériennes graves et des crises vaso-occlusives ischemiques (CVO). Il s'agit d'une maladie des globules rouges d'origine génétique qui se manifeste par une maladie hémolytique et une modification de la forme de globules rouges entraînant d'autres crises occlusives."},"de":{"name":"Sichelzellkrankheit","synonyms":["Homozygote HbS-Erkrankung","Homozygote Sichelzellenanämie SS","Sichelzellanämie"],"definition":"Eine schwere Form der Sichelzellkrankheit (SCD), die durch Homozygotie für das Sichelzell-Hämoglobin-Gen (HbS) gekennzeichnet ist und sich akut durch schwere Anämie, Anfälligkeit für schwere bakterielle Infektionen und ischämische vasookklusive Ereignisse (ischemic vasoocclusive accidents; VOA) äußert. Es handelt sich um eine genetisch bedingte Erkrankung der roten Blutkörperchen, die sich in einer hämolytischen Erkrankung und einem Verlust der Verformbarkeit der roten Blutkörperchen äußert, was zu weiteren Gefäßverschlüssen führt."},"es":{"name":"Anemia falciforme","synonyms":["Anemia de células falciformes","Anemia de células falciformes SS homocigota","Anemia drepanocítica","Anemia falciforme SS homocigota","Drepanocitosis","Hemoglobina S homocigótica"],"definition":"Es una forma grave de la enfermedad de células falciformes (ECF) causada por el gen de la hemoglobina falciforme (HbS) en homocigosis y que se manifiesta de forma aguda con anemia grave, susceptibilidad a infecciones bacterianas graves y accidentes vaso oclusivos (AVO) isquémicos. Es una enfermedad de los glóbulos rojos de origen genético caracterizada por enfermedad hemolítica y pérdida de la deformabilidad eritrocitaria, que conduce a otros eventos oclusivos."},"it":{"name":"Anemia a cellule falciformi","definition":"Si tratta di una forma grave di malattia a cellule falciformi (SCD), caratterizzata dall'omozigosi per il gene dell'emoglobina falciforme (HbS). L'esordio è acuto, con anemia grave, predisposizione alle infezioni batteriche gravi ed eventi vaso-occlusivi ischemici (VOA). Si tratta di una malattia degli eritrociti di origine genetica, che si manifesta con una malattia emolitica e con la perdita di deformabilità dei globuli rossi, che causa altri eventi occlusivi."},"nl":{"name":"Sikkelcelanemie","synonyms":["Homozygote hemoglobine S","Homozygote sikkelcelanemie SS","Sikkelcelziekte"],"definition":"Een ernstige vorm van sikkelcelziekte (SCD), gekenmerkt door homozygositeit voor het gen voor sikkelcelhemoglobine (HbS), en door een acute manifestatie met ernstige anemie, susceptibiliteit voor ernstige bacteriële infecties, en ischemische vaso-occlusieve accidenten (VOA). Het is een aandoening van rode bloedcellen met genetische oorsprong, die zich manifesteert met hemolytische ziekte en verlies van de vervormbaarheid van erytrocyten, wat leidt tot andere occlusieve gebeurtenissen."},"pt":{"name":"Anemia de células falciformes","synonyms":["Anemia falciforme homozigótica SS","Hemoglobina homozigótica S"],"definition":"Forma grave da doença falciforme (DF) caracterizada pela homozigosidade para o gene da hemoglobina falciforme (HbS) e que se manifesta de forma aguda com anemia grave, suscetibilidade a infeções bacterianas graves e acidentes vaso-oclusivos isquémicos (AVI). É uma patologia dos glóbulos vermelhos de origem genética que se manifesta através de doença hemolítica e perda da adaptabilidade dos glóbulos vermelhos levando a outros eventos oclusivos."},"pl":{"name":"Niedokrwistość sierpowata","synonyms":["Anemia sierpowata"],"definition":"Ciężka postać niedokrwistości sierpowatokrwinkowej wskutek homozygotycznej mutacji w genie kodującym hemoglobinę S (HbS). Objawia się ciężką niedokrwistością, podatnością na ciężkie infekcje bakteryjne i niedokrwiennymi zdarzeniami naczyniopochodnymi. Dotyczy krwinek, ma podłoże genetyczne i manifestuje się hemolizą i utratą zdolności do odkształcania się krwinek czerwonych, co prowadzi do niedrożności naczyń krwionośnych."},"cs":{"name":"Srpkovitá anémie","synonyms":["Srpkovitá nemoc"]},"uk":{"name":"Серповидно-клітинна анемія","definition":"A severe form of sickle cell disease (SCD) characterized by homozygosity for the sickle hemoglobin (HbS) gene and which acutely manifests with severe anemia, susceptibility to severe bacterial infections, and ischemic vasoocclusive accidents (VOA). It is a red cell disease of genetic origin which manifests with hemolytic disease and loss of red cell deformability leading to other occlusive events."},"zh":{"name":"镰状细胞性贫血","synonyms":["镰状细胞病"]},"tr":{"name":"Orak hücreli anemi","synonyms":["Orak hücre hastalığı"]}},"xrefs":[{"source":"OMIM","code":"603903","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D57.0","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"D57.1","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"D57.2","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"3A51.1","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"1711513381"},{"source":"ICD-11","code":"3A51.2","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"MONDO","code":"0011382","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000755","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0002895","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8614","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10040641","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":93614,"name":"Hematological disorder with renal involvement","classifications":[156,188]},{"orpha":477771,"name":"Rare disorder with a moyamoya angiopathy","classifications":[156,181]},{"orpha":399185,"name":"Rare hereditary disease with avascular necrosis","classifications":[156,196,199]},{"orpha":275752,"name":"Sickle cell disease","classifications":[156,194,233]}],"children":[],"genes":[{"symbol":"HBB","name":"hemoglobin subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301551[PMID]_24361300[PMID]","hgnc":"4827","ensembl":"ENSG00000244734","omim":"141900","loci":["11p15.4"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":42.0,"area":"France","status":"Validated","source":"OTHERitut de Veille Sanitaire 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":25.0,"area":"Germany","status":"Validated","source":"24398797[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":30.0,"area":"United States","status":"Validated","source":"20331952[PMID]_Center for Diseases Control and Prevention[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":47.5,"area":"Belgium","status":"Validated","source":"10321364[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":41.7,"area":"United Kingdom","status":"Not yet validated","source":"Sickle Cell Society 2008[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2019[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":32.8,"area":"United States","status":"Validated","source":"17183567[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":">1 / 1000","value":344.8,"area":"Guadeloupe","status":"Not yet validated","source":"OTHERitut de Veille Sanitaire 2015[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":">1 / 1000","value":248.75,"area":"Martinique","status":"Not yet validated","source":"OTHERitut de Veille Sanitaire 2015[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":">1 / 1000","value":467.3,"area":"Guyana","status":"Not yet validated","source":"OTHERitut de Veille Sanitaire 2015[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":20.15,"area":"Reunion","status":"Not yet validated","source":"OTHERitut de Veille Sanitaire 2015[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-5 / 10 000","value":21.6262,"area":"Brazil","status":"Validated","source":"35209917[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-02-12","source":"29489205[PMID]_1624972[PMID]_3940552[PMID] _7296040[PMID]_20301551[PMID]","terms":[{"hpo":"HP:0004870","label":"Chronic hemolytic anemia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001878","label":"Hemolytic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001743","label":"Abnormality of the spleen","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010885","label":"Avascular necrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001891","label":"Iron deficiency anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002754","label":"Osteomyelitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011981","label":"Pigment gallstones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001923","label":"Reticulocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000488","label":"Retinopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001894","label":"Thrombocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002597","label":"Abnormality of the vasculature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001081","label":"Cholelithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003259","label":"Elevated circulating creatinine concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031090","label":"Finger dactylitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011886","label":"Hyphema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012418","label":"Hypoxemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025435","label":"Increased circulating lactate dehydrogenase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001406","label":"Intrahepatic cholestasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002140","label":"Ischemic stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011904","label":"Persistence of hemoglobin F","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200023","label":"Priapism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025326","label":"Retinal arterial occlusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034336","label":"Splenic infarction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008282","label":"Unconjugated hyperbilirubinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001931","label":"Hypochromic anemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005518","label":"Increased mean corpuscular volume","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001935","label":"Microcytic anemia","frequency":"Very rare (<4-1%)","criteria":null}]}}