{"Name":"Heinz body anemia","DiseaseID__c":"GARD:0010718","id":10718,"encodedName":"heinz-body-anemia","IsDeleted":false,"Disease_Name_Full__c":"Heinz body anemia","Xref_IDs__c":"C0700299; C563030; DOID:0111363; HP:0005511; MEDGEN:148583; MONDO:0007705; OMIM:140700","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":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MEDGEN:C0700299","Disease_Description__c":"This is a form of nonspherocytic hemolytic anemia of Dacie type I (in vitro autohemolysis is not corrected by added glucose). After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability.Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies; 208530).","GARD_Name__c":"Heinz body anemia","GARD_Synonym__c":"heinz body anaemia; heinz body anemias, alpha-; heinz body hemolytic anemia","Curated_Disease_Description_Source__c":"MEDGEN:C0700299","Curated_Disease_Description__c":"This is a form of nonspherocytic hemolytic anemia of Dacie type I (in vitro autohemolysis is not corrected by added glucose). After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies; 208530).","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 Entity","MONDO_ID__c":"MONDO:0007705","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":"This is a form of nonspherocytic hemolytic anemia of Dacie type I (in vitro autohemolysis is not corrected by added glucose). After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies; 208530).","Curated_Disease_Description_Source__c":"MEDGEN:C0700299","GARD_Synonym__c":"heinz body anaemia; heinz body anemias, alpha-; heinz body hemolytic anemia","Name":"Heinz body anemia","estimateUsa":""}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0700299"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563030","Source__c":"MONDO:0007705","Xref__c":"C563030"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111363","Source__c":"MONDO:0007705","Xref__c":"DOID:0111363"},{"URL__c":"https://www.omim.org/entry/140700","Source__c":"C0700299; MONDO:0007705","Xref__c":"OMIM:140700"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=148583","Source__c":"C0700299","Xref__c":"MEDGEN:148583"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0700299","Source__c":"C0700299","Xref__c":"C0700299"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007705","Source__c":"GARD:0010718","Xref__c":"MONDO:0007705"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0005511","Source__c":"C0700299","Xref__c":"HP:0005511"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HBA2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hba2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"HBA1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hba1","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}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:140700","Feature__r":{"HPO_Description__c":"A type of erythrocyte inclusion composed of denatured hemoglobin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020082","HPO_Name__c":"Heinz bodies","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:140700","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001930","HPO_Name__c":"Nonspherocytic hemolytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:140700","Feature__r":{"HPO_Description__c":"Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005511","HPO_Name__c":"Heinz body anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["heinz body anaemia"," heinz body anemias, alpha-"," heinz body hemolytic anemia"]}