{"Name":"Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome","DiseaseID__c":"GARD:0018648","id":18648,"encodedName":"hereditary-persistence-of-fetal-hemoglobin-sickle-cell-disease-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome","Xref_IDs__c":"C5190890; MEDGEN:1679967; MONDO:0016672; ORPHA:251380","USA_Estimate__c":"200,000","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":"800,000 to 5,000,000","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:0016672","Disease_Description__c":"A rare, genetic, hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis. The genotype is characterized by the combination of an HbS and HbF allele; symptoms depend on the degree of HbF:HbS expressivity with patients with more than 35% pancellular HbF expression being asymptomatic. Symptomatic patients have heterocellular expression of HbF.","GARD_Name__c":"Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome","GARD_Synonym__c":"hereditary persistence of fetal hemoglobin with sickle cell disease syndrome; hpfh-sickle cell disease syndrome","Curated_Disease_Description_Source__c":"ORPHA:251380","Curated_Disease_Description__c":"A rare, genetic, hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations have been reported, namely acute chest syndrome and acute pain crisis. The genotype is characterized by the combination of an HbS and HbF allele; symptoms depend on the degree of HbF:HbS expressivity with patients with more than 35% pancellular HbF expression being asymptomatic. Symptomatic patients have heterocellular expression of HbF.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:251380","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016672","ORPHANET_ID__c":"ORPHA:251380","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de persistencia hereditaria de la hemoglobina fetal-anemia falciforme","Spanish_Description_Source__c":"ORPHA:251380","Spanish_Description__c":"Es una hemoglobinopatía poco frecuente de origen genético caracterizada por un fenotipo clínico generalmente leve, niveles elevados de hemoglobina fetal y microcitosis e hipocromía leves. En algunos casos, se ha descrito manifestaciones agudas de la enfermedad de células falciformes, concretamente el síndrome torácico agudo y las crisis de dolor agudo. El genotipo se caracteriza por la combinación de un alelo HbS y HbF; los síntomas dependen del grado de expresividad HbF:HbS, siendo asintomáticos los pacientes con más del 35% de expresión de HbF pancelular. Los pacientes sintomáticos tienen una expresión heterocelular de HbF.","Spanish_Disease_Name__c":"síndrome de persistencia hereditaria de la hemoglobina fetal-anemia falciforme","Spanish_GARD_Synonym__c":null,"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, genetic, hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations have been reported, namely acute chest syndrome and acute pain crisis. The genotype is characterized by the combination of an HbS and HbF allele; symptoms depend on the degree of HbF:HbS expressivity with patients with more than 35% pancellular HbF expression being asymptomatic. Symptomatic patients have heterocellular expression of HbF.","Curated_Disease_Description_Source__c":"ORPHA:251380","GARD_Synonym__c":"hereditary persistence of fetal hemoglobin with sickle cell disease syndrome; hpfh-sickle cell disease syndrome","Name":"Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"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:251380"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1679967","Source__c":"C5190890","Xref__c":"MEDGEN:1679967"},{"URL__c":"https://www.orpha.net/en/disease/detail/251380","Source__c":"C5190890; MONDO:0016672; ORPHA:251380","Xref__c":"ORPHA:251380"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5190890","Source__c":"C5190890","Xref__c":"C5190890"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016672","Source__c":"GARD:0018648","Xref__c":"MONDO:0016672"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=783254003","Source__c":"C5190890","Xref__c":"783254003"}],"GARD_Disease_Gene__c":[{"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},{"GeneSymbol__c":"KLF1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/klf1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:251380","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004840","HPO_Synonym__c":"Hypochromic, microcytic anemia","HPO_Name__c":"Hypochromic microcytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251380","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Presence of an abnormal type of hemoglobin characterized by the substitution of a glutamic acid residue at position 7 following the initial methionine residue by a valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045047","HPO_Name__c":"HbS hemoglobin","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251380","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002113","HPO_Synonym__c":"Lung infiltrates; Pulmonic infiltration","HPO_Name__c":"Pulmonary infiltrates","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"ORPHA:251380","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Joint pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002829","HPO_Synonym__c":"Arthralgias; Joint pain","HPO_Name__c":"Arthralgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251380","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032169","HPO_Synonym__c":"Unusual course of infection","HPO_Name__c":"Severe infection","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251380","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008346","HPO_Synonym__c":"Increased sickling of erythrocytes; Increased sickling of red cells","HPO_Name__c":"Increased red cell sickling tendency","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251380","HPO_Frequency__c":"Always (100%)","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:251380","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence (aplasia) of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001746","HPO_Synonym__c":"Absent spleen","HPO_Name__c":"Asplenia","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251380","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251380","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Ischemia and necrosis of part or all of the spleen resulting from compromise of blood supply resulting from arterial or venous occlusion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034336","HPO_Synonym__c":"Spleen infarct; Spleen infarction; Splenic infarct","HPO_Name__c":"Splenic infarction","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251380","HPO_Frequency__c":"Occasional (5-29%)","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"}},{"Provided_By__c":"ORPHA:251380","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001923","HPO_Synonym__c":"Increased immature red blood cells; Increased number of immature red blood cells; Increased reticulocyte count; Increased reticulocytes","HPO_Name__c":"Reticulocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251380","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000488","HPO_Synonym__c":"Noninflammatory retina disease","HPO_Name__c":"Retinopathy","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["hereditary persistence of fetal hemoglobin with sickle cell disease syndrome"," hpfh-sickle cell disease syndrome"]}