{"Name":"Sickle cell-hemoglobin C disease","DiseaseID__c":"GARD:0006584","id":6584,"encodedName":"sickle-cell-hemoglobin-c-disease","IsDeleted":false,"Disease_Name_Full__c":"Sickle cell-hemoglobin C disease","Xref_IDs__c":"35434009; C0019034; C34676; MEDGEN:5496; MONDO:0016669; ORPHA:251365","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016669","Disease_Description__c":"A rare, genetic hemoglobinopathy characterized by anemia, reticulocytosis and erythrocyte abnormalities including target cells, irreversibly sickled cells and crystal-containing cells. Clinical course is similar to sickle cell disease, but less severe and with less complications. Signs and symptoms may include acute episodes of pain, splenic infarction and splenic sequestration crisis, acute chest syndrome, focal segmental glomerulosclerosis, ischemic brain injury, peripheral retinopathy, and osteonecrosis.","GARD_Name__c":"Sickle cell-hemoglobin C disease","GARD_Synonym__c":"double heterozygous for hb s and hb d; hbs-hbc disease; hbsc disease; hemoglobin s-c disease; hemoglobin s/c; hemoglobin s/c disease; hemoglobin sc; sickle cell anemia with hemoglobin c disease; sickle cell hemoglobin c; sickle cell-hemoglobin c disease syndrome","Curated_Disease_Description_Source__c":"GARD:0006584","Curated_Disease_Description__c":"Sickle cell-hemoglobin C disease syndrome is a type of sickle cell disease, which means it affects the shape of the red blood cells. Red blood cells contain a protein called hemoglobin, which is responsible for carrying blood throughout the body. People with Sickle cell-hemoglobin C disease syndrome have red blood cells that are differently shaped and therefore do not carry oxygen as effectively. Symptoms of Sickle cell-hemoglobin C disease syndrome include anemia and episodes of fatigue and extreme pain (vaso-occlusive crisis). The severity of the symptoms can vary from person to person. Sickle cell-hemoglobin C disease syndrome is caused by genetic changes in the gene that tells our bodies how to make hemoglobin. These genetic changes cause changes in the shape of the red blood cells. People affected by Sickle cell-hemoglobin C disease syndrome need to be especially careful to avoid infection and should be checked regularly by doctors to make sure all of the organs in the body are functioning properly. In times when the anemia becomes severe, a person affected by Sickle cell-hemoglobin C disease syndrome may require a blood transfusion. A bone marrow transplant may also be recommended depending on the severity of the symptoms.","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:251365","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016669","ORPHANET_ID__c":"ORPHA:251365","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anemia falciforme s-c","Spanish_Description_Source__c":"ORPHA:251365","Spanish_Description__c":"Es una hemoglobinopatía genética poco frecuente caracterizada por anemia, reticulocitosis y anomalías eritrocitarias, incluyendo células en diana, células falciformes irreversibles y células con cristales intraeritrocitarios. El curso clínico es similar al de la anemia falciforme, aunque menos grave y con menos complicaciones asociadas. Los signos y síntomas pueden incluir episodios agudos de dolor, infarto esplénico y crisis de secuestro esplénico, síndrome torácico agudo, glomeruloesclerosis focal y segmentaria, lesión cerebral isquémica, retinopatía periférica y osteonecrosis.","Spanish_Disease_Name__c":"anemia falciforme s-c","Spanish_GARD_Synonym__c":"anemia de células falciformes s-c; anemia de células falciformes-hemoglobina c; anemia falciforme-hemoglobina c; enfermedad de la hemoglobina s-c; enfermedad hbsc","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-hemoglobin C disease syndrome is a type of sickle cell disease, which means it affects the shape of the red blood cells. Red blood cells contain a protein called hemoglobin, which is responsible for carrying blood throughout the body. People with Sickle cell-hemoglobin C disease syndrome have red blood cells that are differently shaped and therefore do not carry oxygen as effectively. Symptoms of Sickle cell-hemoglobin C disease syndrome include anemia and episodes of fatigue and extreme pain (vaso-occlusive crisis). The severity of the symptoms can vary from person to person. Sickle cell-hemoglobin C disease syndrome is caused by genetic changes in the gene that tells our bodies how to make hemoglobin. These genetic changes cause changes in the shape of the red blood cells. People affected by Sickle cell-hemoglobin C disease syndrome need to be especially careful to avoid infection and should be checked regularly by doctors to make sure all of the organs in the body are functioning properly. In times when the anemia becomes severe, a person affected by Sickle cell-hemoglobin C disease syndrome may require a blood transfusion. A bone marrow transplant may also be recommended depending on the severity of the symptoms.","Curated_Disease_Description_Source__c":"GARD:0006584","GARD_Synonym__c":"double heterozygous for hb s and hb d; hbs-hbc disease; hbsc disease; hemoglobin s-c disease; hemoglobin s/c; hemoglobin s/c disease; hemoglobin sc; sickle cell anemia with hemoglobin c disease; sickle cell hemoglobin c; sickle cell-hemoglobin c disease syndrome","Name":"Sickle cell-hemoglobin C disease","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Sickle Cell Consortium","Website__c":"https://sicklecellconsortium.org/"},{"Account_Name__c":"Sickle Cell Disease Association of America","Website__c":"https://www.sicklecelldisease.org/"},{"Account_Name__c":"Sickle Cell Disease Foundation","Website__c":"https://www.scdfc.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:251365"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0019034"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006584","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/251365","Source__c":"C0019034; MONDO:0016669; ORPHA:251365","Xref__c":"ORPHA:251365"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0019034","Source__c":"C0019034","Xref__c":"C0019034"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=5496","Source__c":"C0019034","Xref__c":"MEDGEN:5496"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C34676","Source__c":"C0019034","Xref__c":"C34676"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016669","Source__c":"GARD:0006584","Xref__c":"MONDO:0016669"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C006450","Source__c":"C0019034","Xref__c":"D006450"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=35434009","Source__c":"C0019034","Xref__c":"35434009"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HBB","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hbb","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["double heterozygous for hb s and hb d"," hbs-hbc disease"," hbsc disease"," hemoglobin s-c disease"," hemoglobin s/c"," hemoglobin s/c disease"," hemoglobin sc"," sickle cell anemia with hemoglobin c disease"," sickle cell hemoglobin c"," sickle cell-hemoglobin c disease syndrome"]}