{"orpha":251359,"name":"Sickle cell-beta-thalassemia disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HbS-beta-thalassemia syndrome"],"definition":"A rare, genetic hemoglobinopathy that affects red blood cells both in the production of abnormal hemoglobin, as well as the decreased synthesis of beta globin chains. Clinical manifestations depend on the amount of residual beta globin chains production, and are similar to sickle cell disease, including anemia, vascular occlusion and its complications, acute episodes of pain, acute chest syndrome, pulmonary hypertension, sepsis, ischemic brain injury, splenic sequestration crisis and splenomegaly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251359/","orphanet_url":"https://www.orpha.net/en/disease/detail/251359","names":{"fr":{"name":"Drépanocytose-bêta-thalassémie","synonyms":["HbS-bêta-thalassémie","Thalassodrépanocytose"],"definition":"Hémoglobinopathie génétique rare résultant d'une production d'hémoglobine anormale et de la diminution de la production des chaînes bêta-polypeptidiques de l'hémoglobine, affectant les globules rouges. Les manifestations cliniques dépendent de la quantité de production de chaînes bêta-polypeptidiques de l'hémoglobine et sont similaires à celles de la drépanocytose, à savoir anémie, occlusion vasculaire et ses complications, épisodes de douleur aiguë, syndrome thoracique aigu, hypertension pulmonaire, septicémie, lésions cérébrales ischémiques, crise de séquestration splénique et splénomégalie."},"de":{"name":"Sichelzell-beta-Thalassämie","synonyms":["HbS-beta-Thalassämie-Syndrom","Sichelzellkrankheit HbSbeta-Thalassämie"],"definition":"Eine seltene, genetisch bedingte Hämoglobinopathie, die die roten Blutkörperchen sowohl durch die Produktion von anormalem Hämoglobin als auch in der verminderten Synthese von Betaglobinketten beeinträchtigt. Die klinischen Manifestationen hängen von der Menge der verbleibenden Beta-Globinkettenproduktion ab und ähneln der Sichelzellkrankheit, einschließlich Anämie, Gefäßverschlüssen und deren Komplikationen, akuten Schmerzepisoden, akutem Brustsyndrom, pulmonaler Hypertonie, Sepsis, ischämischer Hirnschädigung, Milzsequestrierungskrise und Splenomegalie."},"es":{"name":"Enfermedad de células falciformes-beta-talasemia","synonyms":["Síndrome de HbS-beta-talasemia"],"definition":"Es una hemoglobinopatía genética y poco frecuente que afecta a los glóbulos rojos, tanto en la producción de hemoglobina anómala, como en la disminución de la síntesis de cadenas de beta globina. Los hallazgos clínicos dependen de la producción residual de cadenas de beta globina y son similares a las manifestaciones clínicas de la anemia falciforme, incluyendo anemia, oclusión vascular y sus complicaciones, episodios agudos de dolor, síndrome torácico agudo, hipertensión pulmonar, sepsis, lesión cerebral isquémica, crisis de secuestro esplénico y esplenomegalia."},"it":{"name":"Falcemia-beta talassemia","synonyms":["Sindrome da HbS-beta-talassemia"],"definition":"È un'emoglobinopatia genetica rara che colpisce i globuli rossi causando anomalie nella produzione dell'emoglobina ed una riduzione della sintesi delle catene beta-globiniche. I segni clinici dipendono dalla produzione residua di catene beta-globiniche e sono simili a quelli della drepanocitosi (anemia, occlusione vascolare e relative complicanze, episodi acuti dolorosi, sindrome toracica acuta, ipertensione polmonare, sepsi, danno ischemico cerebrale, crisi da sequestro splenico e splenomegalia)."},"nl":{"name":"Sikkelcel - bèta-thalassemie-ziekte","synonyms":["HbS - bèta-thalassemie-syndroom"],"definition":"Een zeldzame, genetische hemoglobinopathie die de rode bloedcellen aantast, met productie van abnormaal hemoglobine en verminderde aanmaak van bèta-globineketens. De klinische manifestaties zijn afhankelijk van de mate van residuele productie van bèta-globineketens, en zijn gelijkaardig aan die van sikkelcelziekte, zoals onder meer anemie, vasculaire occlusie en de complicaties hiervan, acute episodes met pijn, acute borstsyndroom, pulmonale hypertensie, sepsis, ischemisch hersenletsel, miltsekwestratie en splenomegalie."},"pt":{"name":"Síndrome de células falciformes-beta-talassemia","synonyms":["Síndrome HbS-beta-talassemia"]},"pl":{"name":"Niedokrwistość sierpowata - beta-talasemia","synonyms":["HbS - beta-talasemia"]},"cs":{"name":"Syndrom srpkovité anémie a beta talasemie","synonyms":["Syndrom HbS-beta talasemie"]},"uk":{"name":"Синдром серповидноклітинної бета-таласемії","synonyms":["Синдром HbS-бета-таласемії"],"definition":"A rare, genetic hemoglobinopathy that affects red blood cells both in the production of abnormal hemoglobin, as well as the decreased synthesis of beta globin chains. Clinical manifestations depend on the amount of residual beta globin chains production, and are similar to sickle cell disease, including anemia, vascular occlusion and its complications, acute episodes of pain, acute chest syndrome, pulmonary hypertension, sepsis, ischemic brain injury, splenic sequestration crisis and splenomegaly."},"zh":{"name":"镰状细胞β地中海贫血综合征","synonyms":["HbS-β地中海贫血综合征"],"definition":"一种罕见的遗传性血红蛋白病，在产生异常血红蛋白和β-珠蛋白链合成减少的同时影响红细胞。临床表现与镰状细胞疾病相似，主要表现为贫血、血管闭塞及其并发症、急性发作疼痛、急性胸腔综合征、肺动脉高压、脓毒症、缺血性脑损伤、脾滞留型危象和脾肿大。"},"tr":{"name":"Orak hücre-beta-talasemi hastalığı sendromu","synonyms":["HbS-beta-talasemi sendromu"]}},"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":"0016668","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0221019","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10333","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10040655","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":[{"orpha":695147,"name":"Sickle cell-beta plus-thalassemia","type":"Etiological subtype"},{"orpha":695140,"name":"Sickle cell-beta zero-thalassemia","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"HBB","name":"hemoglobin subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21250876[PMID]","hgnc":"4827","ensembl":"ENSG00000244734","omim":"141900","loci":["11p15.4"],"via":{"orpha":695140,"name":"Sickle cell-beta zero-thalassemia"}},{"symbol":"HBB","name":"hemoglobin subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34567471[PMID]","hgnc":"4827","ensembl":"ENSG00000244734","omim":"141900","loci":["11p15.4"],"via":{"orpha":695147,"name":"Sickle cell-beta plus-thalassemia"}}],"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}