{"orpha":251365,"name":"Sickle cell S-C disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HbSC disease","Hemoglobin S-C disease","Sickle cell-hemoglobin C disease"],"definition":"A rare, genetic hemoglobinopathy characterized by anemia, reticulocytosis and erythrocyte abnormalities including target cells, irreversibly sickled cells and crystal-containing cells. Clinical course is similar to sickle cell disease, but less severe and with less complications. Signs and symptoms may include acute episodes of pain, splenic infarction and splenic sequestration crisis, acute chest syndrome, focal segmental glomerulosclerosis, ischemic brain injury, peripheral retinopathy, and osteonecrosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251365/","orphanet_url":"https://www.orpha.net/en/disease/detail/251365","names":{"fr":{"name":"Drépanocytose SC","synonyms":["Drépanocytose-hémoglobine C","HbSC"],"definition":"Hémoglobinopathie génétique rare caractérisée par une anémie, une réticulocytose et des anomalies érythrocytaires, notamment des cellules cibles, des cellules irréversiblement falciformes et des cellules contenant des cristaux. L'évolution clinique est similaire à celle de la drépanocytose, avec des signes moins graves et des complications plus rares. Les signes et symptômes peuvent inclure des épisodes de douleur aiguë, un infarctus splénique et une crise de séquestration splénique, un syndrome thoracique aigu, une glomérulosclérose segmentaire et focale, une lésion cérébrale ischémique, une rétinopathie périphérique et une ostéonécrose."},"de":{"name":"Sichelzellkrankheit HbSC","synonyms":["HbSC-Krankheit","Hämoglobin S-C-Krankheit"],"definition":"Eine seltene, genetisch bedingte Hämoglobinopathie, die durch Anämie, Retikulozytose und Anomalien der Erythrozyten gekennzeichnet ist, darunter Targetzellen (Schießscheiben-Erythrozyten), irreversibel gesichelte Zellen und kristallhaltige Zellen. Der klinische Verlauf ist ähnlich wie bei der Sichelzellkrankheit, jedoch weniger schwerwiegend und mit weniger Komplikationen verbunden. Zu den Anzeichen und Symptomen können akute Schmerzepisoden, Milzinfarkte und Milzsequestrierungskrisen, akutes Brustsyndrom, fokal segmentale Glomerulosklerose, ischämische Hirnschädigung, periphere Retinopathie und Osteonekrose gehören."},"es":{"name":"Anemia falciforme S-C","synonyms":["Anemia de células falciformes S-C","Anemia de células falciformes-hemoglobina C","Anemia falciforme-hemoglobina C","Enfermedad HbSC","Enfermedad de la hemoglobina S-C"],"definition":"Es una hemoglobinopatía genética poco frecuente caracterizada por anemia, reticulocitosis y anomalías eritrocitarias, incluyendo células en diana, células falciformes irreversibles y células con cristales intraeritrocitarios. El curso clínico es similar al de la anemia falciforme, aunque menos grave y con menos complicaciones asociadas. Los signos y síntomas pueden incluir episodios agudos de dolor, infarto esplénico y crisis de secuestro esplénico, síndrome torácico agudo, glomeruloesclerosis focal y segmentaria, lesión cerebral isquémica, retinopatía periférica y osteonecrosis."},"it":{"name":"Drepanocitosi e emoglobinopatia C","synonyms":["HbSC"],"definition":"È un'emoglobinopatia genetica rara, caratterizzata da anemia, reticolocitosi ed anomalie degli eritrociti, che comprendono le cellule a bersaglio, le cellule irreversibilmente falciformi e le cellule contenenti cristalli. Il decorso clinico è simile a quello della drepanocitosi, ma è meno grave con meno complicanze. I segni clinici comprendono gli episodi acuti di dolore, l'infarto della milza e la crisi da sequestro splenico, la sindrome toracica acuta, la gromelurosclerosi focale segmentaria, il danno ischemico cerebrale, la retinopatia periferica e l'osteonecrosi."},"nl":{"name":"Sikkelcelziekte S-C","synonyms":["HbSC-ziekte","Hemoglobine S-C-ziekte","Sikkelcel-hemoglobine C-ziekte"],"definition":"Een zeldzame, genetische hemoglobinopathie die gekarakteriseerd wordt door anemie, reticulocytose en anomalieën van erytrocyten waaronder codocyten (doelcellen), onomkeerbaar sikkelvormige cellen en kristalhoudende cellen. Het klinisch verloop is gelijkaardig aan dat van sikkelcelziekte, maar minder ernstig en met minder complicaties. Mogelijke tekenen en symptomen zijn onder meer acute episodes met pijn, miltinfarct en miltsekwestratie, acute borstsyndroom, focale segmentale glomerulosclerose, ischemisch hersenletsel, perifere retinopathie, en osteonecrose."},"pt":{"name":"Anemia falciforme S-C","synonyms":["Anemia falciforme hemoglobina C","Doença HbSC","Doença hemoglobina S-C"]},"pl":{"name":"Niedokrwistość sierpowata - choroba hemoglobiny C","synonyms":["Choroba HbSC"]},"cs":{"name":"Syndrom srpkovité anémie a onemocnění hemoglobinu C","synonyms":["HbSC onemocnění"]},"uk":{"name":"Синдром серповидноклітинної анемії з гемоглобіном С","synonyms":["Захворювання HbSC"],"definition":"A rare, genetic hemoglobinopathy characterized by anemia, reticulocytosis and erythrocyte abnormalities including target cells, irreversibly sickled cells and crystal-containing cells. Clinical course is similar to sickle cell disease, but less severe and with less complications. Signs and symptoms may include acute episodes of pain, splenic infarction and splenic sequestration crisis, acute chest syndrome, focal segmental glomerulosclerosis, ischemic brain injury, peripheral retinopathy, and osteonecrosis."},"zh":{"name":"镰状细胞血红蛋白C病综合征","synonyms":["HbSC病"],"definition":"一种罕见的遗传性血红蛋白病，以贫血、网织红细胞增多和红细胞异常包括靶形细胞、不可逆转的镰状细胞和含有晶体的细胞为特征。临床病程与镰状细胞病相似，但病情较轻，并发症较少。体征和症状可能包括急性发作的疼痛、脾梗死和脾滞留型危象、急性胸腔综合征、局灶性节段性肾小球硬化、缺血性脑损伤、外周视网膜病变和骨坏死。"},"tr":{"name":"Orak hücre-hemoglobin C hastalığı sendromu","synonyms":["HbSC hastalığı"]}},"xrefs":[{"source":"ICD-10","code":"D57.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"3A51.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A51.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016669","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D006450","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0019034","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6584","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10057072","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"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]","hgnc":"4827","ensembl":"ENSG00000244734","omim":"141900","loci":["11p15.4"]}],"genes_via_subtypes":[],"inheritance":["Autosomal 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}