{"Name":"Alpha Thalassemia","DiseaseID__c":"GARD:0000621","id":621,"encodedName":"alpha-thalassemia","IsDeleted":false,"Disease_Name_Full__c":"Alpha Thalassemia","Xref_IDs__c":"68913001; C0002312; C34368; D017085; D56.0; DOID:1099; MEDGEN:1434; MONDO:0011399; NBK1435; OMIM:604131; ORPHA:846","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011399","Disease_Description__c":"A rare inherited hemoglobinopathy characterized by impaired synthesis of two to all four alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.","GARD_Name__c":"Alpha Thalassemia","GARD_Synonym__c":"alpha thalassaemia; alpha thalassemia spectrum; alpha thalassemia syndrome; alpha-thalassemia; thalassemia, alpha-; thalassemias, alpha-","Curated_Disease_Description_Source__c":"GARD:0000621","Curated_Disease_Description__c":"Alpha thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen to cells throughout the body. In people with the characteristic features of alpha thalassemia, a reduction in the amount of hemoglobin prevents enough oxygen from reaching the body's tissues. Affected individuals also have a shortage of red blood cells (anemia), which can cause pale skin, weakness, fatigue, and more serious complications. Two types of alpha thalassemia can cause health problems. The more severe type is known as hemoglobin Bart hydrops fetalis syndrome, which is also called Hb Bart syndrome or alpha thalassemia major. The milder form is called HbH disease. Hb Bart syndrome is characterized by hydrops fetalis, a condition in which excess fluid builds up in the body before birth. Additional signs and symptoms can include severe anemia, an enlarged liver and spleen (hepatosplenomegaly), heart defects, and abnormalities of the urinary system or genitalia. Without treatment, most babies with this condition are stillborn or die soon after birth because of these serious health problems. Hb Bart syndrome can also cause serious complications for women during pregnancy, including dangerously high blood pressure with swelling (preeclampsia), premature delivery, and abnormal bleeding. HbH disease causes mild to moderate anemia, hepatosplenomegaly, and yellowing of the eyes and skin (jaundice). The features of HbH disease usually appear in early childhood, and affected individuals typically live into adulthood.","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:846","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0011399","ORPHANET_ID__c":"ORPHA:846","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Alfa talasemia","Spanish_Description_Source__c":"ORPHA:846","Spanish_Description__c":"Es una hemoglobinopatía hereditaria poco frecuente caracterizada por una alteración de la síntesis de las dos a cuatro cadenas de globina-alfa, que conduce a un cuadro clínico variable según el número de alelos afectados.","Spanish_Disease_Name__c":"alfa talasemia","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":"Alpha thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen to cells throughout the body. In people with the characteristic features of alpha thalassemia, a reduction in the amount of hemoglobin prevents enough oxygen from reaching the body's tissues. Affected individuals also have a shortage of red blood cells (anemia), which can cause pale skin, weakness, fatigue, and more serious complications. Two types of alpha thalassemia can cause health problems. The more severe type is known as hemoglobin Bart hydrops fetalis syndrome, which is also called Hb Bart syndrome or alpha thalassemia major. The milder form is called HbH disease. Hb Bart syndrome is characterized by hydrops fetalis, a condition in which excess fluid builds up in the body before birth. Additional signs and symptoms can include severe anemia, an enlarged liver and spleen (hepatosplenomegaly), heart defects, and abnormalities of the urinary system or genitalia. Without treatment, most babies with this condition are stillborn or die soon after birth because of these serious health problems. Hb Bart syndrome can also cause serious complications for women during pregnancy, including dangerously high blood pressure with swelling (preeclampsia), premature delivery, and abnormal bleeding. HbH disease causes mild to moderate anemia, hepatosplenomegaly, and yellowing of the eyes and skin (jaundice). The features of HbH disease usually appear in early childhood, and affected individuals typically live into adulthood.","Curated_Disease_Description_Source__c":"GARD:0000621","GARD_Synonym__c":"alpha thalassaemia; alpha thalassemia spectrum; alpha thalassemia syndrome; alpha-thalassemia; thalassemia, alpha-; thalassemias, alpha-","Name":"Alpha Thalassemia","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Cooley's Anemia Foundation","Website__c":"https://www.thalassemia.org/"},{"Account_Name__c":"Thalassaemia International Federation","Website__c":"https://thalassaemia.org.cy"}],"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":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney 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:846"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Secondary","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/Hb-F-H"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0002312"},{"Type__c":"GTR","Curie__c":"MEDGEN:C1456873"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1435","Source__c":"Gene Review","Xref__c":"NBK1435"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A1099","Source__c":"MONDO:0011399","Xref__c":"DOID:1099"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=68913001","Source__c":"C0002312; MONDO:0011399","Xref__c":"68913001"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/D56.0","Source__c":"MONDO:0011399","Xref__c":"D56.0"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C34368","Source__c":"C0002312; MONDO:0011399","Xref__c":"C34368"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0002312","Source__c":"C0002312","Xref__c":"C0002312"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1434","Source__c":"C0002312","Xref__c":"MEDGEN:1434"},{"URL__c":"https://www.orpha.net/en/disease/detail/846","Source__c":"C0002312; MONDO:0011399; ORPHA:846","Xref__c":"ORPHA:846"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C017085","Source__c":"C0002312; MONDO:0011399","Xref__c":"D017085"},{"URL__c":"https://www.omim.org/entry/604131","Source__c":"C0002312; MONDO:0011399; ORPHA:846","Xref__c":"OMIM:604131"},{"URL__c":"https://medlineplus.gov/genetics/condition/alpha-thalassemia","Source__c":"GARD:0000621","Xref__c":"https://medlineplus.gov/genetics/condition/alpha-thalassemia"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011399","Source__c":"GARD:0000621","Xref__c":"MONDO:0011399"}],"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}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:846","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007430","HPO_Synonym__c":"Generalized tissue edema","HPO_Name__c":"Generalized edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:846","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001789","HPO_Name__c":"Hydrops fetalis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:846","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A kind of anemia in which the volume of the red blood cells is reduced.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001935","HPO_Name__c":"Microcytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:846","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Accumulation of fluid within the pericardium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001698","HPO_Synonym__c":"Fluid around heart; Pericardial effusions","HPO_Name__c":"Pericardial effusion","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:846","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0430028","HPO_Synonym__c":"Big maxilla; Big upper jaw; Hyperplasia of upper jaw; Increased size of maxilla; Increased size of upper jaw; Large maxilla; Large upper jaw; Maxillary excess; Maxillary hyperplasia; Maxillary macrognathia; Maxillary prominence; Prominent maxilla; Prominent upper jaw; Upper jaw bone excess; Upper jaw excess","HPO_Name__c":"Hyperplasia of the maxilla","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:846","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of an excessive amount of fluid in the pleural cavity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002202","HPO_Synonym__c":"Fluid around lungs","HPO_Name__c":"Pleural effusion","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:846","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of anemia caused by premature destruction of red blood cells (hemolysis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001878","HPO_Synonym__c":"Haemolytic anemia; Increased hemolysis","HPO_Name__c":"Hemolytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:846","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Simultaneous enlargement of the liver and spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001433","HPO_Synonym__c":"Enlarged liver and spleen","HPO_Name__c":"Hepatosplenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:846","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:846","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:846","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005507","HPO_Synonym__c":"Hb Barts","HPO_Name__c":"Hemoglobin Barts","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:846","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000952","HPO_Synonym__c":"Icterus; Jaundice; Yellow skin; Yellowing of the skin","HPO_Name__c":"Jaundice","Feature_System__c":"Skin System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:846","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001635","HPO_Synonym__c":"Cardiac failure; Cardiac failures; Cardiac insufficiency; CHF; Chronic heart failure; Heart failure","HPO_Name__c":"Congestive heart failure","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:846","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A functional abnormality of the immune system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010978","HPO_Name__c":"Abnormality of immune system physiology","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:846","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010620","HPO_Synonym__c":"Malar excess; Malar hyperplasia; Prominent malar region","HPO_Name__c":"Malar prominence","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:846","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100543","HPO_Synonym__c":"Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment","HPO_Name__c":"Cognitive impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:846","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004823","HPO_Name__c":"Anisopoikilocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:846","HPO_Frequency__c":"Occasional (5-29%)","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:846","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hard, pebble-like deposits that form within the gallbladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001081","HPO_Synonym__c":"Gallstones","HPO_Name__c":"Cholelithiasis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:846","HPO_Frequency__c":"Frequent (30-79%)","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:846","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A malfunctioning of the spleen in which it prematurely destroys red blood cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001971","HPO_Name__c":"Hypersplenism","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:846","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001978","HPO_Name__c":"Extramedullary hematopoiesis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:846","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002863","HPO_Synonym__c":"Myelodysplastic syndrome","HPO_Name__c":"Myelodysplasia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Hematology"],"Specialist":["Genetics","Nephrology","Hematology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["alpha thalassaemia"," alpha thalassemia spectrum"," alpha thalassemia syndrome"," alpha-thalassemia"," thalassemia, alpha-"," thalassemias, alpha-"]}