{"orpha":251375,"name":"Sickle cell S-E disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["HbSE disease","Hemoglobin S-E disease","Sickle cell-hemoglobin E disease"],"definition":"A rare, genetic hemoglobinopathy usually characterized by mild microcytic hemolysis and, very rarely, vaso-occlusive complications. Severe manifestations have been reported, including hematuria, splenic infarction, acute chest syndrome, acute episodes of pain and reversible bone marrow necrosis. The genotype is characterized by an HbS allele in combination with an HbE variant (beta26glu>lys); symptoms are due to the low allelic expression of HbE leading to HbS predominance (65+/-5%).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251375/","orphanet_url":"https://www.orpha.net/en/disease/detail/251375","names":{"fr":{"name":"Drépanocytose SE","synonyms":["Drépanocytose-hémoglobine SE","HbSE"],"definition":"Hémoglobinopathie génétique rare, caractérisée généralement par une légère hémolyse microcytaire et, très rarement, par des complications vaso-occlusives. Des symptômes sévères ont été rapportés, notamment une hématurie, un infarctus splénique, un syndrome thoracique aigu, des épisodes douloureux aigus et une nécrose réversible de la moelle osseuse. Le génotype est caractérisé par un allèle HbS en combinaison avec un variant HbE (bêta26glu>lys) ; les symptômes sont dus à la faible expression allélique de l'HbE qui entraîne une prédominance de l'HbS (65+/-5 %)."},"de":{"name":"Sichelzellkrankheit HbSE","synonyms":["HbSE-Krankheit","Hämoglobin S-E-Kankheit","SCD-S/E-Krankheit","Sichelzell-Hämoglobin-E-Krankheit"],"definition":"Eine seltene genetisch bedingte Hämoglobinopathie, die in der Regel durch eine leichte mikrozytäre Hämolyse und sehr selten durch vaso-okklusive Komplikationen gekennzeichnet ist. Es wurde über schwerwiegende Manifestationen berichtet, darunter Hämaturie, Milzinfarkt, akutes Thoraxsyndrom, akute Schmerzepisoden und reversible Knochenmarknekrosen. Der Genotyp ist durch ein HbS-Allel in Kombination mit einer HbE-Variante (beta26glu>lys) gekennzeichnet; die Symptome sind auf die geringe allelische Expression von HbE zurückzuführen, was zu einer HbS-Dominanz führt (65+/-5%)."},"es":{"name":"Anemia falciforme S-E","synonyms":["Anemia de células falciformes S-E","Anemia de células falciformes-hemoglobina E","Anemia falciforme-hemoglobina E","Enfermedad HbSE","Enfermedad de la hemoglobina S-E"],"definition":"Es una hemoglobinopatía poco frecuente de origen genético que suele caracterizarse por una leve hemólisis microcítica y, muy raramente, por complicaciones vaso-oclusivas. También se ha descrito la presencia de manifestaciones graves, como hematuria, infarto esplénico, síndrome torácico agudo, episodios agudos de dolor y necrosis reversible de médula ósea. El genotipo se caracteriza por un alelo HbS en combinación con una variante HbE (beta26glu>lys); los síntomas se deben a la baja expresión alélica de la HbE, que conduce al predominio de la HbS (65 +/- 5%)."},"it":{"name":"Associazione falcemia e emoglobinopatia E","definition":"Si tratta di un'emoglobinopatia genetica rara, di solito caratterizzata da emolisi microcitica lieve e, molto raramente, da complicanze vaso-occlusive. I pazienti possono presentare sintomi gravi, che comprendono l'ematuria, l'infarto della milza, la sindrome toracica acuta, episodi acuti di dolore e necrosi reversibile del midollo osseo. Il genotipo è caratterizzato da un allele HbS associato ad una variante HbE (beta26glu>lys); i sintomi sono dovuti alla ridotta espressione allelica di HbE che comporta la predominanza di HbS (65+/-5%)."},"nl":{"name":"Sikkelcelziekte S-E","synonyms":["HbSE-ziekte","Hemoglobine S-E-ziekte","Sikkelcel-hemoglobine E-ziekte"],"definition":"Een zeldzame, genetische hemoglobinopathie, meestal gekenmerkt door milde microcytaire hemolyse en, in zeer zeldzame gevallen, vaso-occlusieve complicaties. Er werden ernstige manifestaties gerapporteerd, waaronder hematurie, miltinfarct, acute borstsyndroom, acute episodes van pijn, en omkeerbare necrose van beenmerg. Het genotype wordt gekenmerkt door een HbS allel in combinatie met een HbE variant (beta26glu>lys); symptomen zijn te wijten aan lage allelische expressie van HbE die leidt tot overwicht van HbS (65 +/- 5%)."},"pt":{"name":"Anemia falciforme S-E","synonyms":["Doença hemoglobina S-E","Anemia falciforme hemoglobina E","Doença HbSE"]},"pl":{"name":"Niedokrwistość sierpowata - choroba hemoglobiny E disease","synonyms":["Choroba HbSE"]},"cs":{"name":"Syndrom srpkovité anémie a onemocnění hemoglobinu E","synonyms":["HbSE onemocnění"]},"uk":{"name":"Синдром серповидноклітинної анемії з гемоглобіном Е","synonyms":["Хвороба HbSE"],"definition":"A rare, genetic hemoglobinopathy usually characterized by mild microcytic hemolysis and, very rarely, vaso-occlusive complications. Severe manifestations have been reported, including hematuria, splenic infarction, acute chest syndrome, acute episodes of pain and reversible bone marrow necrosis. The genotype is characterized by an HbS allele in combination with an HbE variant (beta26glu>lys); symptoms are due to the low allelic expression of HbE leading to HbS predominance (65+/-5%)."},"zh":{"name":"镰状细胞血红蛋白E病综合征","synonyms":["HbSE病"],"definition":"一种罕见的遗传性血红蛋白病，通常以轻度溶血为特征，无血管闭塞并发症或红细胞形态异常。然而，也有更严重的症状被报道，包括血尿、脾梗死、急性冠脉综合征、急性疼痛发作和可逆性骨髓坏死。"},"tr":{"name":"Orak hücre-hemoglobin E hastalığı sendromu","synonyms":["HbSE 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":"131785602"},{"source":"MONDO","code":"0016671","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1112747","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}