{"Name":"Acquired hemoglobin H disease","DiseaseID__c":"GARD:0017167","id":17167,"encodedName":"acquired-hemoglobin-h-disease","IsDeleted":false,"Disease_Name_Full__c":"Acquired hemoglobin H disease","Xref_IDs__c":"307343001; C0585216; C563023; DOID:0112125; MEDGEN:108433; MONDO:0010328; OMIM:300448; ORPHA:231401","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010328","Disease_Description__c":"An acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH).","GARD_Name__c":"Acquired hemoglobin H disease","GARD_Synonym__c":"acquired haemoglobin h disease; acquired hbh disease; alpha-thalassemia myelodysplasia syndrome; alpha-thalassemia myelodysplasia syndrome, somatic; alpha-thalassemia-myelodysplastic syndrome; atmds","Curated_Disease_Description_Source__c":"MONDO:0010328","Curated_Disease_Description__c":"An acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:231401","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010328","ORPHANET_ID__c":"ORPHA:231401","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Alfa-talasemia-síndrome mielodisplásico","Spanish_Description_Source__c":"ORPHA:231401","Spanish_Description__c":"Es una forma adquirida de alfa talasemia caracterizada por un síndrome mielodisplásico (SMD) o, con menor frecuencia, por enfermedad mieloproliferativa (EMP) asociada a una enfermedad de la hemoglobina H (HbH).","Spanish_Disease_Name__c":"alfa-talasemia-síndrome mielodisplásico","Spanish_GARD_Synonym__c":"atmds; enfermedad de la hbh adquirida; enfermedad de la hemoglobina h adquirida","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":"An acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH).","Curated_Disease_Description_Source__c":"MONDO:0010328","GARD_Synonym__c":"acquired haemoglobin h disease; acquired hbh disease; alpha-thalassemia myelodysplasia syndrome; alpha-thalassemia myelodysplasia syndrome, somatic; alpha-thalassemia-myelodysplastic syndrome; atmds","Name":"Acquired hemoglobin H disease","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:231401"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112125","Source__c":"MONDO:0010328","Xref__c":"DOID:0112125"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563023","Source__c":"MONDO:0010328","Xref__c":"C563023"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=307343001","Source__c":"C0585216; MONDO:0010328","Xref__c":"307343001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0585216","Source__c":"C0585216","Xref__c":"C0585216"},{"URL__c":"https://www.omim.org/entry/300448","Source__c":"C0585216; MONDO:0010328; ORPHA:231401","Xref__c":"OMIM:300448"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=108433","Source__c":"C0585216","Xref__c":"MEDGEN:108433"},{"URL__c":"https://www.orpha.net/en/disease/detail/231401","Source__c":"C0585216; MONDO:0010328; ORPHA:231401","Xref__c":"ORPHA:231401"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010328","Source__c":"GARD:0017167","Xref__c":"MONDO:0010328"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ATRX","GHR_URL__c":"https://medlineplus.gov/genetics/gene/atrx","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:231401","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001875","HPO_Synonym__c":"Low blood neutrophil count; Low neutrophil count; Neutropenia; Peripheral neutropenia","HPO_Name__c":"Decreased total neutrophil count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231401","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002094","HPO_Synonym__c":"Abnormal breathing; Breathing difficulty; Difficult to breathe; Difficulty breathing; Shortness of breath; Trouble breathing","HPO_Name__c":"Dyspnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231401","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001892","HPO_Synonym__c":"Bleeding diathesis; Bleeding tendency; Hemorrhagic diathesis","HPO_Name__c":"Abnormal bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231401","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:231401","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the number of circulating thrombocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001873","HPO_Synonym__c":"Low platelet count","HPO_Name__c":"Thrombocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231401","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231401","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hemoglobin H (HbH) contains four beta-globin chains. It is normally not present at all in blood, but may make up about 1-40 percent of all hemoglobin in HbH disease, a subform of alpha thalassemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011903","HPO_Synonym__c":"Hemoglobin H","HPO_Name__c":"HbH hemoglobin","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231401","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002721","HPO_Synonym__c":"Decreased immune function; Immune deficiency","HPO_Name__c":"Immunodeficiency","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231401","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000978","HPO_Synonym__c":"Bruisability; Bruise easily; Bruising susceptibility; Easy bruisability; Easy bruising","HPO_Name__c":"Bruising susceptibility","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231401","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002488","HPO_Synonym__c":"Acute leukemias","HPO_Name__c":"Acute leukemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231401","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"}},{"Provided_By__c":"ORPHA:231401","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology"]},"synonyms":["acquired haemoglobin h disease"," acquired hbh disease"," alpha-thalassemia myelodysplasia syndrome"," alpha-thalassemia myelodysplasia syndrome, somatic"," alpha-thalassemia-myelodysplastic syndrome"," atmds"]}