{"Name":"Sickle cell-beta-thalassemia","DiseaseID__c":"GARD:0010333","id":10333,"encodedName":"sickle-cell-beta-thalassemia","IsDeleted":false,"Disease_Name_Full__c":"Sickle cell-beta-thalassemia","Xref_IDs__c":"127041004; C0221019; C95539; MEDGEN:452211; MONDO:0016668; ORPHA:251359","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016668","Disease_Description__c":"Sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body.It is a type of sickle cell disease. Affected people have a differentchange (mutation) in each copy of their HBB gene: onethat causes red blood cells to form a 'sickle' or crescent shape and a second that is associated with beta thalassemia, a blood disorder that reduces the production of hemoglobin. Depending on the beta thalassemia mutation, people may have no normal hemoglobin (called sickle beta zero thalassemia) or a reduced amount of normal hemoglobin (called sickle beta plus thalassemia). The presence of sickle-shaped red blood cells, which often breakdown prematurely and can get stuck in blood vessels, combined with the reduction or absence of mature redblood cells leads to the many signs and symptoms of sickle beta thalassemia. Features, which may include anemia (low levels of red blood cells), repeated infections, and frequent episodes of pain, generally develop in early childhood and vary in severity depending on the amount of normal hemoglobin made. Sickle beta thalassemia is inherited in an autosomal recessive manner. Treatment is supportive and depends on the signs and symptoms present in each person.","GARD_Name__c":"Sickle cell-beta-thalassemia","GARD_Synonym__c":"double heterozygous for hb s and beta thalassemia; hb s-beta thalassemia; hbs-beta-thalassemia syndrome; hemoglobin s beta-thalassemia; hemoglobin s/beta thalassemia; s-beta thalassemia; sickle cell-beta thalassemia; sickle cell-beta-thalassemia disease syndrome; thalassemia with hemoglobin s disease","Curated_Disease_Description_Source__c":"GARD:0010333","Curated_Disease_Description__c":"Sickle cell-beta-thalassemia disease syndrome is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body. It is a type of sickle cell disease. Affected people have a different change in each copy of their HBB gene: one that causes red blood cells to form a \"\"sickle\"\" or crescent shape and a second that is associated with beta thalassemia, a blood disorder that reduces the production of hemoglobin. Depending on the beta thalassemia genetic change, people may have no normal hemoglobin (called sickle beta zero thalassemia) or a reduced amount of normal hemoglobin (called sickle beta plus thalassemia). The presence of sickle-shaped red blood cells, which often breakdown prematurely and can get stuck in blood vessels, combined with the reduction or absence of mature red blood cells leads to the many signs and symptoms of sickle cell-beta-thalassemia disease syndrome. Features, which may include anemia (low levels of red blood cells), repeated infections, and frequent episodes of pain, generally develop in early childhood and vary in severity depending on the amount of normal hemoglobin made. Sickle cell-beta-thalassemia disease syndrome is inherited in an autosomal recessive manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:251359","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016668","ORPHANET_ID__c":"ORPHA:251359","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de anemia falciforme-beta-talasemia","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de anemia falciforme-beta-talasemia","Spanish_GARD_Synonym__c":"hbs-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":"Sickle cell-beta-thalassemia disease syndrome is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body. It is a type of sickle cell disease. Affected people have a different change in each copy of their HBB gene: one that causes red blood cells to form a \"\"sickle\"\" or crescent shape and a second that is associated with beta thalassemia, a blood disorder that reduces the production of hemoglobin. Depending on the beta thalassemia genetic change, people may have no normal hemoglobin (called sickle beta zero thalassemia) or a reduced amount of normal hemoglobin (called sickle beta plus thalassemia). The presence of sickle-shaped red blood cells, which often breakdown prematurely and can get stuck in blood vessels, combined with the reduction or absence of mature red blood cells leads to the many signs and symptoms of sickle cell-beta-thalassemia disease syndrome. Features, which may include anemia (low levels of red blood cells), repeated infections, and frequent episodes of pain, generally develop in early childhood and vary in severity depending on the amount of normal hemoglobin made. Sickle cell-beta-thalassemia disease syndrome is inherited in an autosomal recessive manner.","Curated_Disease_Description_Source__c":"GARD:0010333","GARD_Synonym__c":"double heterozygous for hb s and beta thalassemia; hb s-beta thalassemia; hbs-beta-thalassemia syndrome; hemoglobin s beta-thalassemia; hemoglobin s/beta thalassemia; s-beta thalassemia; sickle cell-beta thalassemia; sickle cell-beta-thalassemia disease syndrome; thalassemia with hemoglobin s disease","Name":"Sickle cell-beta-thalassemia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Sickle Cell Anemia Association","Website__c":"https://www.ascaa.org/"},{"Account_Name__c":"Sickle Cell Disease Association of America","Website__c":"https://www.sicklecelldisease.org/"},{"Account_Name__c":"Sickle Cell Information Center","Website__c":"https://scinfo.org/"},{"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"},{"Account_Name__c":"Sickle Cell Consortium","Website__c":"https://sicklecellconsortium.org/"},{"Account_Name__c":"Sickle Cell Thalassemia Patients Network","Website__c":"https://sctpn.net/"},{"Account_Name__c":"Sickle Cell Disease Foundation","Website__c":"https://www.scdfc.org/"},{"Account_Name__c":"Sickle Transplant Alliance for Research","Website__c":"https://curesicklenow.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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:251359"}],"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:C0221019"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010333","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=127041004","Source__c":"C0221019; MONDO:0016668","Xref__c":"127041004"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C95539","Source__c":"C0221019; MONDO:0016668","Xref__c":"C95539"},{"URL__c":"https://www.orpha.net/en/disease/detail/251359","Source__c":"MONDO:0016668","Xref__c":"ORPHA:251359"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016668","Source__c":"GARD:0010333","Xref__c":"MONDO:0016668"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0221019","Source__c":"C0221019","Xref__c":"C0221019"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=452211","Source__c":"C0221019","Xref__c":"MEDGEN:452211"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["double heterozygous for hb s and beta thalassemia"," hb s-beta thalassemia"," hbs-beta-thalassemia syndrome"," hemoglobin s beta-thalassemia"," hemoglobin s/beta thalassemia"," s-beta thalassemia"," sickle cell-beta thalassemia"," sickle cell-beta-thalassemia disease syndrome"," thalassemia with hemoglobin s disease"]}