{"orpha":251380,"name":"Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HPFH-sickle cell disease syndrome"],"definition":"A rare, genetic, hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis. The genotype is characterized by the combination of an HbS and HbF allele; symptoms depend on the degree of HbF:HbS expressivity with patients with more than 35% pancellular HbF expression being asymptomatic. Symptomatic patients have heterocellular expression of HbF.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251380/","orphanet_url":"https://www.orpha.net/en/disease/detail/251380","names":{"fr":{"name":"Syndrome héréditaire de persistance de l'hémoglobine foetale-drépanocytose","synonyms":["HPFH-drépanocytose"],"definition":"Hémoglobinopathie génétique rare caractérisée par un phénotype clinique généralement modéré, des taux d'hémoglobine foetale élevés, une microcytose et une hypochromie légères. Dans certains cas, des signes cliniques aiguës de drépanocytose ont été rapportés, à savoir un syndrome thoracique aigu et une crise douloureuse aiguë. Le génotype est caractérisé par la combinaison d'un allèle HbS et HbF ; les signes cliniques varient en fonction du degré d'expressivité HbF/HbS, les patients présentant une expression HbF pancellulaire supérieure à 35 % sont asymptomatiques, et ceux qui présentent une expression hétérocellulaire de l'HbF sont symptomatiques."},"de":{"name":"Hereditäre Persistenz des fetalen Hämoglobins mit Sichelzellkrankheit","definition":"Eine seltene genetisch bedingte Hämoglobinopathie, die durch einen im Allgemeinen milden klinischen Phänotyp, hohe fetale Hämoglobinwerte und eine milde Mikrozytose und Hypochromie gekennzeichnet ist. In einigen Fällen wurde über akute Sichelzellkrankheitsmanifestationen berichtet, insbesondere über ein akutes Brustsyndrom und eine akute Schmerzkrise. Der Genotyp ist durch die Kombination eines HbS- und eines HbF-Allels gekennzeichnet; die Symptome hängen vom Grad der HbF:HbS-Expressivität ab, wobei Patienten mit einer mehr als 35%igen panzellulären HbF-Expression asymptomatisch sind. Symptomatische Patienten haben eine heterozelluläre Expression von HbF."},"es":{"name":"Síndrome de persistencia hereditaria de la hemoglobina fetal-anemia falciforme","definition":"Es una hemoglobinopatía poco frecuente de origen genético caracterizada por un fenotipo clínico generalmente leve, niveles elevados de hemoglobina fetal y microcitosis e hipocromía leves. En algunos casos, se ha descrito manifestaciones agudas de la enfermedad de células falciformes, concretamente el síndrome torácico agudo y las crisis de dolor agudo. El genotipo se caracteriza por la combinación de un alelo HbS y HbF; los síntomas dependen del grado de expresividad HbF:HbS, siendo asintomáticos los pacientes con más del 35% de expresión de HbF pancelular. Los pacientes sintomáticos tienen una expresión heterocelular de HbF."},"it":{"name":"Sindrome persistenza ereditaria dell'emoglobina fetale-anemia a cellule falciformi","definition":"Si tratta di un'emoglobinopatia genetica rara, caratterizzata in genere da un quadro clinico lieve, livelli elevati di emoglobina fetale, microcitosi e ipocromia lievi. Alcuni pazienti presentano i sintomi acuti dell'anemia a cellule falciformi, in particolare la sindrome toracica acuta e le crisi di dolore acuto. Il genotipo è caratterizzato dall'associazione tra un allele HbS e HbF; i sintomi dipendono dell'espressione di HbF:HbS; i pazienti con più del 35% di espressione di HbF pancellulare sono asintomatici. I pazienti sintomatici presentano un'espressione eterocellulare di HbF."},"nl":{"name":"Hereditaire persistentie van foetaal hemoglobine - sikkelcelziekte-syndroom","synonyms":["HPFH - sikkelcelziekte-syndroom"],"definition":"Een zeldzame, genetische hemoglobinopathie, gekarakteriseerd door een doorgaans mild klinisch fenotype, hoge gehaltes van foetaal hemoglobine, en milde microcytose en hypochromie. In sommige gevallen werden manifestaties van acute sikkelcelziekte gerapporteerd, namelijk 'acute chest'-syndroom en acute pijnaanval. Het genotype wordt gekenmerkt door de combinatie van een HbS en een HbF allel; symptomen hangen af van de mate van expressiviteit van HbF:HbS, en patiënten met meer dan 35% pancellulaire expressie van HbF zijn asymptomatisch. Symptomatisch patiënten vertonen heterocellulaire expressie van HbF."},"pt":{"name":"Persistência de hemoglobina fetal hereditária - doença de células falciformes"},"pl":{"name":"Dziedziczne przetrwanie hemoglobiny płodowej - niedokrwistość sierpowata","synonyms":["HPFH - niedokrwistość sierpowata"]},"cs":{"name":"Syndrom zahrnující dědičnou perzistenci fetálního hemoglobinu a srpkovitou anémii","synonyms":["Syndrom zahrnující HPFH a srpkovitou anémii"]},"uk":{"name":"Синдром спадкової персистенції фетального гемоглобіну-серповидноклітинної анемії","synonyms":["Синдром серповидноклітинної анемії HPFH"],"definition":"A rare, genetic, hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis. The genotype is characterized by the combination of an HbS and HbF allele; symptoms depend on the degree of HbF:HbS expressivity with patients with more than 35% pancellular HbF expression being asymptomatic. Symptomatic patients have heterocellular expression of HbF."},"zh":{"name":"遗传性持续性胎儿血红蛋白-镰状细胞病综合征","synonyms":["HPFH-镰状细胞病综合征"],"definition":"一种罕见的遗传性血红蛋白病，其特征是临床表型一般较轻，胎儿血红蛋白水平较高，并伴有轻微的小红细胞减少和低血红素。在一些病例中，报道了急性镰状细胞病的表现，即急性胸腔综合征和急性疼痛危象。"},"tr":{"name":"Fetal hemoglobin-orak hücre hastalığı sendromunun kalıtsal kalıcılığı","synonyms":["HPFH-orak hücre hastalığı sendromu"]}},"xrefs":[{"source":"OMIM","code":"141749","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"142335","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"142470","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"305435","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613566","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D57.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A51.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1455152722"},{"source":"MONDO","code":"0016672","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190890","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":"BCL11A","name":"BCL11 transcription factor A","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"13221","ensembl":"ENSG00000119866","omim":"606557","loci":["2p16.1"]},{"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"]},{"symbol":"HBG1","name":"hemoglobin subunit gamma 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"8598197[PMID]_2468996[PMID]","hgnc":"4831","ensembl":"ENSG00000213934","omim":"142200","loci":["11p15.4"]},{"symbol":"HBG2","name":"hemoglobin subunit gamma 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"8598197[PMID]_2468996[PMID]","hgnc":"4832","ensembl":"ENSG00000196565","omim":"142250","loci":["11p15.4"]},{"symbol":"KLF1","name":"KLF transcription factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20676099[PMID]","hgnc":"6345","ensembl":"ENSG00000105610","omim":"600599","loci":["19p13.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":10.6,"area":"United States","status":"Validated","source":"22766612[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2022-09-23","source":"30777489[PMID]_32072665[PMID]_22017641[PMID]_2454649[PMID]_27117574[PMID]_23281181[PMID]_6196049[PMID]","terms":[{"hpo":"HP:0011904","label":"Persistence of hemoglobin F","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0045047","label":"HbS hemoglobin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001746","label":"Asplenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004840","label":"Hypochromic microcytic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008346","label":"Increased red cell sickling tendency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002113","label":"Pulmonary infiltrates","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001923","label":"Reticulocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000488","label":"Retinopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032169","label":"Severe infection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034336","label":"Splenic infarction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}