{"Name":"Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome","DiseaseID__c":"GARD:0018642","id":18642,"encodedName":"hereditary-persistence-of-fetal-hemoglobin-beta-thalassemia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome","Xref_IDs__c":"C0271994; MEDGEN:543715; MONDO:0018749; ORPHA:46532","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018749","Disease_Description__c":"Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells.","GARD_Name__c":"Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome","GARD_Synonym__c":"hereditary persistence of fetal hemoglobin thalassemia; hpfh (hereditary persistence of fetal hemoglobin) beta-thalassemia syndrome; hpfh-beta-thalassemia syndrome","Curated_Disease_Description_Source__c":"ORPHA:46532","Curated_Disease_Description__c":"Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:46532","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018749","ORPHANET_ID__c":"ORPHA:46532","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de persistencia hereditaria de hemoglobina fetal-beta-talasemia","Spanish_Description_Source__c":"ORPHA:46532","Spanish_Description__c":"La persistencia hereditaria de hemoglobina fetal (PHHF) asociada con la BT (ver este término) se caracteriza por una elevada concentracion de Hb F, y un elevado número de hematies con Hb fetal.","Spanish_Disease_Name__c":"síndrome de persistencia hereditaria de hemoglobina fetal-beta-talasemia","Spanish_GARD_Synonym__c":"hpfh-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":"Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells.","Curated_Disease_Description_Source__c":"ORPHA:46532","GARD_Synonym__c":"hereditary persistence of fetal hemoglobin thalassemia; hpfh (hereditary persistence of fetal hemoglobin) beta-thalassemia syndrome; hpfh-beta-thalassemia syndrome","Name":"Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome","estimateUsa":""}],"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":"Childhood","Provided_By__c":"ORPHA:46532"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0271994","Source__c":"C0271994","Xref__c":"C0271994"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=543715","Source__c":"C0271994","Xref__c":"MEDGEN:543715"},{"URL__c":"https://www.orpha.net/en/disease/detail/46532","Source__c":"C0271994; MONDO:0018749; ORPHA:46532","Xref__c":"ORPHA:46532"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=16964007","Source__c":"C0271994","Xref__c":"16964007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018749","Source__c":"GARD:0018642","Xref__c":"MONDO:0018749"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KLF1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/klf1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"HBG2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"HBB","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hbb","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"HBG1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:46532","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally pale skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000980","HPO_Name__c":"Pallor","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:46532","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:46532","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any anomaly in the composite material or the layered arrangement of the bony skeleton.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003330","HPO_Name__c":"Abnormal bone structure","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:46532","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011904","HPO_Synonym__c":"Increased hemoglobin F; Persistence of HbF","HPO_Name__c":"Persistence of hemoglobin F","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:46532","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:46532","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["hereditary persistence of fetal hemoglobin thalassemia"," hpfh (hereditary persistence of fetal hemoglobin) beta-thalassemia syndrome"," hpfh-beta-thalassemia syndrome"]}