{"Name":"Hemoglobin Lepore-beta-thalassemia syndrome","DiseaseID__c":"GARD:0021505","id":21505,"encodedName":"hemoglobin-lepore-beta-thalassemia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hemoglobin Lepore-beta-thalassemia syndrome","Xref_IDs__c":"C5679855; MEDGEN:1826060; MONDO:0018022; ORPHA:330032","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:330032","Disease_Description__c":"A rare beta-thalassemia associated with another hemoglobin anomaly characterized by the presence of the hemoglobin Lepore variant in association with beta-thalassemia. Clinical presentation is highly variable, depending on the type of beta-thalassemia, and ranges from severe hypochromic microcytic anemia and complete transfusion dependency to moderate, compensated anemia without a need for regular blood transfusions.","GARD_Name__c":"Hemoglobin Lepore-beta-thalassemia syndrome","GARD_Synonym__c":"hblepore-beta-thalassemia syndrome; lepore-beta-thalassemia syndrome","Curated_Disease_Description_Source__c":"ORPHA:330032","Curated_Disease_Description__c":"A rare beta-thalassemia associated with another hemoglobin anomaly characterized by the presence of the hemoglobin Lepore variant in association with beta-thalassemia. Clinical presentation is highly variable, depending on the type of beta-thalassemia, and ranges from severe hypochromic microcytic anemia and complete transfusion dependency to moderate, compensated anemia without a need for regular blood transfusions.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:330032","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018022","ORPHANET_ID__c":"ORPHA:330032","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hemoglobina lepore-beta-talasemia","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de hemoglobina lepore-beta-talasemia","Spanish_GARD_Synonym__c":"hb lepore-beta-talasemia; lepore-beta-talasemia","Category_Linearization__c":"ORPHA:97992","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A rare beta-thalassemia associated with another hemoglobin anomaly characterized by the presence of the hemoglobin Lepore variant in association with beta-thalassemia. Clinical presentation is highly variable, depending on the type of beta-thalassemia, and ranges from severe hypochromic microcytic anemia and complete transfusion dependency to moderate, compensated anemia without a need for regular blood transfusions.","Curated_Disease_Description_Source__c":"ORPHA:330032","GARD_Synonym__c":"hblepore-beta-thalassemia syndrome; lepore-beta-thalassemia syndrome","Name":"Hemoglobin Lepore-beta-thalassemia syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Cooley's Anemia Foundation","Website__c":"https://www.thalassemia.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood diseases"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"No data available","Provided_By__c":"ORPHA:330032"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5679855","Source__c":"C5679855","Xref__c":"C5679855"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1826060","Source__c":"C5679855","Xref__c":"MEDGEN:1826060"},{"URL__c":"https://www.orpha.net/en/disease/detail/330032","Source__c":"C5679855; MONDO:0018022; ORPHA:330032","Xref__c":"ORPHA:330032"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018022","Source__c":"GARD:0021505","Xref__c":"MONDO:0018022"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology"]},"synonyms":["hblepore-beta-thalassemia syndrome"," lepore-beta-thalassemia syndrome"]}