{"orpha":90039,"name":"Hemoglobin D disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"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).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90039/","orphanet_url":"https://www.orpha.net/en/disease/detail/90039","names":{"fr":{"name":"Hémoglobinose D","definition":"L'hémoglobinose D est une hémoglobinopathie caractérisée par la production d'une variante de l'hémoglobine anormale connue sous le nom d'hémoglobine D, avec ou sans manifestations cliniques légères/modérées (splénomégalie, anémie très modérée)."},"de":{"name":"Hämoglobin-D-Krankheit"},"es":{"name":"Enfermedad de la hemoglobina D","definition":"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)."},"it":{"name":"Emoglobinopatia D","definition":"La malattia da emoglobina H (HbH) è una forma moderata-grave di alfa talassemia (si veda questo termine), caratterizzata da marcata anemia emolitica ipocromica microcitica."},"nl":{"name":"Hemoglobine D-ziekte","definition":"Hemoglobine D-ziekte (HbD) is een hemoglobinopathie die gekenmerkt wordt door de productie van een abnormale hemoglobinevariant, bekend als hemoglobine D, met geen of milde klinische manifestaties (splenomegalie, zeer milde anemie)."},"pt":{"name":"Doença da hemoglobina D"},"pl":{"name":"Choroba hemoglobiny D"},"cs":{"name":"Nemoc hemoglobinu D"},"uk":{"name":"Хвороба гемоглобіну D","definition":"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)."},"zh":{"name":"血红蛋白D病"},"tr":{"name":"Hemoglobin D hastalığı"}},"xrefs":[{"source":"ICD-10","code":"D58.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A51.6","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1508363690"},{"source":"MONDO","code":"0019537","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0272080","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10055019","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":466066,"name":"Genetic hemoglobinopathy","classifications":[156]},{"orpha":68364,"name":"Hemoglobinopathy","classifications":[194,233]}],"children":[],"genes":[{"symbol":"HBB","name":"hemoglobin subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11757720[PMID]_25332633[PMID]","hgnc":"4827","ensembl":"ENSG00000244734","omim":"141900","loci":["11p15.4"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-10-12","source":"26119666[PMID]_21194265[PMID]_ 33884322[PMID]_ 26405395[PMID]","terms":[{"hpo":"HP:0011902","label":"Abnormal hemoglobin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005560","label":"Imbalanced hemoglobin synthesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025547","label":"Decreased mean corpuscular hemoglobin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025066","label":"Decreased mean corpuscular volume","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045048","label":"Increased HbA2 hemoglobin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011907","label":"Reduced alpha/beta synthesis ratio","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011906","label":"Reduced beta/alpha synthesis ratio","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011905","label":"Reduced hemoglobin A","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045047","label":"HbS hemoglobin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030058","label":"Sickled erythrocytes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very rare (<4-1%)","criteria":null}]}}