{"Name":"Thalassemia","DiseaseID__c":"GARD:0007756","id":7756,"encodedName":"thalassemia","IsDeleted":false,"Disease_Name_Full__c":"Thalassemia","Xref_IDs__c":"40108008; C0039730; C35069; D013789; D56; DOID:10241; MEDGEN:21121; MONDO:0000984","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":3,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0000984","Disease_Description__c":"An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation.","GARD_Name__c":"Thalassemia","GARD_Synonym__c":"hereditary leptocytosis; sickle-cell thalassemia with crisis; sickle-cell thalassemia without crisis; thalassemia hb-s disease with crisis; thalassemia hb-s disease without crisis; thalassemia syndrome","Curated_Disease_Description_Source__c":"GARD:0007756","Curated_Disease_Description__c":"Thalassemia is an inherited blood disorder that reduces the production of functional hemoglobin (the protein in red blood cells that carries oxygen). There are two main types of Thalassemia, alpha Thalassemia and beta Thalassemia. Signs and symptoms vary but may include mild to severe anemia, paleness, fatigue, yellow discoloration of skin (jaundice), and bone problems. Beta Thalassemia is caused by changes in the HBB gene while alpha Thalassemia is caused by genetic changes in the HBA1 and/or HBA2 genes. Both are inherited in an autosomal recessive manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0000984","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Thalassemia is an inherited blood disorder that reduces the production of functional hemoglobin (the protein in red blood cells that carries oxygen). There are two main types of Thalassemia, alpha Thalassemia and beta Thalassemia. Signs and symptoms vary but may include mild to severe anemia, paleness, fatigue, yellow discoloration of skin (jaundice), and bone problems. Beta Thalassemia is caused by changes in the HBB gene while alpha Thalassemia is caused by genetic changes in the HBA1 and/or HBA2 genes. Both are inherited in an autosomal recessive manner.","Curated_Disease_Description_Source__c":"GARD:0007756","GARD_Synonym__c":"hereditary leptocytosis; sickle-cell thalassemia with crisis; sickle-cell thalassemia without crisis; thalassemia hb-s disease with crisis; thalassemia hb-s disease without crisis; thalassemia syndrome","Name":"Thalassemia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Cooley's Anemia Foundation","Website__c":"https://www.thalassemia.org/"},{"Account_Name__c":"Thalassaemia International Federation","Website__c":"https://thalassaemia.org.cy"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Core","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/Hb-F-S-A"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0039730"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=40108008","Source__c":"C0039730; MONDO:0000984","Xref__c":"40108008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=21121","Source__c":"C0039730","Xref__c":"MEDGEN:21121"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A10241","Source__c":"MONDO:0000984","Xref__c":"DOID:10241"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C35069","Source__c":"C0039730; MONDO:0000984","Xref__c":"C35069"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C013789","Source__c":"C0039730; MONDO:0000984","Xref__c":"D013789"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/D56","Source__c":"MONDO:0000984","Xref__c":"D56"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0039730","Source__c":"C0039730","Xref__c":"C0039730"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=84188003","Source__c":"C0039730","Xref__c":"84188003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0000984","Source__c":"GARD:0007756","Xref__c":"MONDO:0000984"},{"URL__c":"https://medlineplus.gov/thalassemia.html"},{"URL__c":"https://www.nhlbi.nih.gov/health/thalassemia"},{"URL__c":"https://www.genome.gov/Genetic-Disorders/Thalassemia"}],"tags":{},"synonyms":["hereditary leptocytosis"," sickle-cell thalassemia with crisis"," sickle-cell thalassemia without crisis"," thalassemia hb-s disease with crisis"," thalassemia hb-s disease without crisis"," thalassemia syndrome"]}