{"Name":"Hemoglobin D disease","DiseaseID__c":"GARD:0019103","id":19103,"encodedName":"hemoglobin-d-disease","IsDeleted":false,"Disease_Name_Full__c":"Hemoglobin D disease","Xref_IDs__c":"66729008; C0272080; C35344; DOID:5378; MEDGEN:124416; MONDO:0019537; ORPHA:90039","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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019537","Disease_Description__c":"Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia).","GARD_Name__c":"Hemoglobin D disease","GARD_Synonym__c":"hb-d disease; hemoglobin d-d disease","Curated_Disease_Description_Source__c":"MONDO:0019537","Curated_Disease_Description__c":"Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:90039","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019537","ORPHANET_ID__c":"ORPHA:90039","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de la hemoglobina d","Spanish_Description_Source__c":"ORPHA:90039","Spanish_Description__c":"Es una hemoglobinopatía caracterizada por la producción de una variante anómala de la hemoglobina conocida como hemoglobina D, sin manifestaciones clínicas o con manifestaciones clínicas leves (esplenomegalia, anemia muy leve).","Spanish_Disease_Name__c":"enfermedad de la hemoglobina d","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":"Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia).","Curated_Disease_Description_Source__c":"MONDO:0019537","GARD_Synonym__c":"hb-d disease; hemoglobin d-d disease","Name":"Hemoglobin D disease","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:90039"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=66729008","Source__c":"C0272080; MONDO:0019537","Xref__c":"66729008"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C35344","Source__c":"C0272080; MONDO:0019537","Xref__c":"C35344"},{"URL__c":"https://www.orpha.net/en/disease/detail/90039","Source__c":"C0272080; MONDO:0019537; ORPHA:90039","Xref__c":"ORPHA:90039"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A5378","Source__c":"MONDO:0019537","Xref__c":"DOID:5378"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=124416","Source__c":"C0272080","Xref__c":"MEDGEN:124416"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0272080","Source__c":"C0272080","Xref__c":"C0272080"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019537","Source__c":"GARD:0019103","Xref__c":"MONDO:0019537"}],"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"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:90039","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An irreversible distortion of the morphology of an erythrocyte such that the cells are elongated and curved, resembling the blade of a sickle (the hand-held agricultural tool traditionally used to harvest grains).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030058","HPO_Name__c":"Sickled erythrocytes","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90039","HPO_Frequency__c":"Occasional (5-29%)","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:90039","HPO_Frequency__c":"Uncommon (<1-4%)","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:90039","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025547","HPO_Synonym__c":"Decreased MCH; Decreased MCHC; Decreased mean corpuscular Hb concentration","HPO_Name__c":"Decreased mean corpuscular hemoglobin concentration","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90039","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011907","HPO_Name__c":"Reduced alpha/beta synthesis ratio","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90039","HPO_Frequency__c":"Uncommon (<1-4%)","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:90039","HPO_Frequency__c":"Uncommon (<1-4%)","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:90039","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hemoglobin A (HbA) contains two globin alpha chains and two globin beta chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decreased in the proportion of HbA below this limit, and can be seen in various forms of thalassemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011905","HPO_Synonym__c":"Reduced HbA","HPO_Name__c":"Reduced hemoglobin A","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90039","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An elevated concentration in the blood of hemoglobin A2 (HbA2), which is a normal variant of hemoglobin A that consists of two alpha and two delta chains and is normally present at low levels in adults but may be increased in beta thalassemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045048","HPO_Synonym__c":"Increased hemoglobin A2","HPO_Name__c":"Increased HbA2 hemoglobin","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90039","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011902","HPO_Synonym__c":"Abnormal Hb","HPO_Name__c":"Abnormal hemoglobin","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90039","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011906","HPO_Name__c":"Reduced beta/alpha synthesis ratio","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90039","HPO_Frequency__c":"Uncommon (<1-4%)","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:90039","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005560","HPO_Synonym__c":"Imbalanced Hb synthesis","HPO_Name__c":"Imbalanced hemoglobin synthesis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90039","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025066","HPO_Synonym__c":"Decreased MCV; Microcytosis; Reduced erythrocyte volume","HPO_Name__c":"Decreased mean corpuscular volume","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["hb-d disease"," hemoglobin d-d disease"]}