{"orpha":251370,"name":"Sickle cell S-D Punjab disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["HbSD disease","Hemoglobin S-D Punjab disease","Sickle cell-hemoglobin D disease"],"definition":"A rare, genetic hemoglobinopathy characterized by all the characteristics of sickle cell anemia (SCA). Clinical course is similar to SCA, including acute episodes of pain, splenic infarction and splenic sequestration crisis, vaso-occlusive crisis, acute chest syndrome, ischemic brain injury, osteomyelitis and avascular bone necrosis. The genotype is characterized by an HbS allele in combination with the HbD variant, beta121Glu>Gln.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251370/","orphanet_url":"https://www.orpha.net/en/disease/detail/251370","names":{"fr":{"name":"Drépanocytose S-D Punjab","synonyms":["Drépanocytose-hémoglobine D Punjab","Drépanocytose-hémoglobinose D","HbSD"],"definition":"Hémoglobinopathie génétique rare présentant toutes les caractéristiques de l'anémie falciforme (ACS). L'évolution clinique est similaire à celle de l'ACS, notamment avec des épisodes aigus de douleur, une crise d'infarctus splénique et de séquestration splénique, une crise vaso-occlusive, un syndrome thoracique aigu, une lésion cérébrale ischémique, une ostéomyélite et une nécrose osseuse avasculaire. Le génotype est caractérisé par un allèle HbS en combinaison avec le variant HbD, bêta121Glu>Gln."},"de":{"name":"Sichelzellkrankheit S-D Punjab","synonyms":["HbSD-Krankheit","Hämoglobin D-Punjab-Kankheit","Sichelzellkrankheit HbSD"],"definition":"Eine seltene genetisch bedingte Hämoglobinopathie, die alle Merkmale der Sichelzellenanämie (SCA) aufweist. Der klinische Verlauf ähnelt dem der SCA, einschließlich akuter Schmerzepisoden, Milzinfarkt und Milzsequestrierungskrise, vasookklusiver Krise, akutem Brustsyndrom, ischämischer Hirnschädigung, Osteomyelitis und avaskulärer Knochennekrose. Der Genotyp ist durch ein HbS-Allel in Kombination mit der HbD-Variante, beta121Glu>Gln, gekennzeichnet."},"es":{"name":"Anemia falciforme S-D Punjab","synonyms":["Enfermedad de la hemoglobina S-D Punjab","Anemia de células falciformes S-D Punjab","Anemia de células falciformes-hemoglobina D","Anemia falciforme-hemoglobina D","Enfermedad HbSD"],"definition":"Es una hemoglobinopatía poco frecuente de origen genético que se manifiesta con todas las características de la anemia falciforme (ACS). El curso clínico es similar al de la anemia falciforme, incluyendo episodios agudos de dolor, infarto esplénico y crisis de secuestro esplénico, crisis vaso-oclusiva, síndrome torácico agudo, lesión cerebral isquémica, osteomielitis y necrosis ósea avascular. El genotipo se caracteriza por un alelo HbS en combinación con la variante HbD, beta121Glu>Gln."},"it":{"name":"Sindrome anemia a cellule falciformi-emoglobinopatia D","definition":"Si tratta di un'emoglobinopatia genetica rara, caratterizzata dai segni clinici dell'anemia a cellule falciformi (SCA). Il decorso clinico è simile a quello della SCA, con episodi acuti di dolore, infarto della milza e crisi da sequestro splenico, crisi vaso-occlusive, sindrome toracica acuta, danno ischemico cerebrale, osteomielite e necrosi ossea avascolare. Il genotipo è caratterizzato da un allele HbS associato alla mutazione HbD, beta121Glu>Gln."},"nl":{"name":"Sikkelcelziekte S-D Punjab","synonyms":["HbSD-ziekte","Hemoglobine S-D Punjab-ziekte","Sikkelcel-hemoglobine D-ziekte"],"definition":"Een zeldzame, genetische hemoglobinopathie, gekarakteriseerd door alle kenmerken van sikkelcelanemie (SCA). Het klinische verloop is gelijkaardig aan dat van SCA, inclusief acute episodes van pijn, miltinfarct en miltsekwestratie, vaso-occlusieve crisis, acute borst-syndroom, ischemisch hersenletsel, osteomyelitis, en avasculaire botnecrose. Het genotype wordt gekenmerkt door een <i>HbS</i> allel in combinatie met de <i>HbD</i>-variant beta121Glu>Gln."},"pt":{"name":"Anemia falciforme S-D Punjab","synonyms":["Anemia falciforme hemoglobina D","Doença HbSD","Doença hemoglobina S-D Punjab"]},"pl":{"name":"Niedokrwistość sierpowata - choroba hemoglobiny D","synonyms":["Choroba HbSD"]},"cs":{"name":"Syndrom srpkovité anémie a onemocnění hemoglobinu D","synonyms":["HbSD onemocnění"]},"uk":{"name":"Синдром серповидноклітинної анемії з гемоглобіном D","synonyms":["Захворювання HbSD"],"definition":"A rare, genetic hemoglobinopathy characterized by all the characteristics of sickle cell anemia (SCA). Clinical course is similar to SCA, including acute episodes of pain, splenic infarction and splenic sequestration crisis, vaso-occlusive crisis, acute chest syndrome, ischemic brain injury, osteomyelitis and avascular bone necrosis. The genotype is characterized by an HbS allele in combination with the HbD variant, beta121Glu>Gln."},"zh":{"name":"镰状细胞血红蛋白D病综合征","synonyms":["HbSD病"],"definition":"一种罕见的遗传性血红蛋白病，以贫血和红细胞异常为特征，包括红细胞不均等、多核细胞增多、靶细胞和不可逆转的镰状细胞。临床病程与镰状细胞病相似，包括急性疼痛发作、脾梗死和脾滞留型危象、血管闭塞危象、急性冠脉综合征、缺血性脑损伤、骨髓炎和缺血性骨坏死。"},"tr":{"name":"Orak hücre-hemoglobin D hastalığı sendromu","synonyms":["HbSD 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":"index","validated":true,"icd11_uri":"1601142784"},{"source":"MONDO","code":"0016670","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0272084","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12458","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10056724","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":700085,"name":"Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant","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}