{"schema":"https://ver.cy/schemas/card/1.0.0","id":"vr.tr.hemoglobinopathy","code":"thing-q1642147","url":"https://ver.cy/models/thing/q1642147/","name":"hemoglobinopathy","alternateNames":["Hemoglobin J","sickle cell-hemoglobin E disease syndrome","Hemoglobin M disease","hemoglobin E","hemoglobin D disease","hemoglobin Constant Spring","Hemoglobin Hopkins-2","hemoglobin C","Hereditary persistence of fetal hemoglobin","alpha-thalassemia and related diseases","beta-thalassemia and related diseases","unstable hemoglobin disease"],"kind":"thing","status":"published","version":"0.2.0-wave.4","language":"en","classifiers":{"family":"Thing Registry","category":"Information and virtual systems","entryKind":"thing","plane":"INF","domain":["INF.KNW"],"industry":[],"navPath":"","tags":[],"facets":{}},"whatItIs":"An inherited genetic defect that changes the structure of haemoglobin, the oxygen-carrying protein of red blood cells, as in sickle cell disease and haemoglobins C, D, E, J and M named in registry aliases; combinations such as sickle cell-haemoglobin E disease and variants such as haemoglobin Constant Spring also occur. Some structural variants also affect globin production, but disorders defined solely by reduced globin production are outside this sense. Structural haemoglobin disorders are among the most common single-gene disorders worldwide, especially where malaria has been endemic, and range from harmless traits to severe disease; diagnosis, genetic counselling and specialist care matter, and acute crises need urgent treatment.","purpose":"Let an agent explain inherited structural haemoglobin defects in general terms, relay structural variants, inheritance, the malaria link and care from haematology sources, describe the named variants, route acute crises, and distinguish these defects from disorders solely of globin production, anaemia generally, other inherited anaemias and acquired haemoglobin changes, without diagnosing individuals.","scope":{"in":[],"out":[],"boundaries":[]},"distinguishingFeatures":["The genetic defect affects haemoglobin.","Abnormal haemoglobin structure defines this sense, although some structural variants also affect production.","The distribution of some variants is linked to historical malaria exposure.","Severity ranges from harmless traits to severe disease."],"structure":{"bundles":[{"id":"understand","name":"Understand","description":"What a haemoglobinopathy is.","layers":[{"id":"definition","name":"Definition","description":"Definition.","findings":[{"id":"definition-finding","name":"Definition","description":"Definition.","questions":[{"text":"Is there a severe pain crisis, breathlessness, fever or stroke-like symptoms in someone with a haemoglobin disorder, in which case seek urgent care?","kind":"boundary"},{"text":"What is a haemoglobinopathy, and how does it differ from anaemia generally, other inherited anaemias and acquired haemoglobin changes?","kind":"definition"}]}]},{"id":"variants","name":"Variants","description":"Named variants.","findings":[{"id":"variants-finding","name":"Variants","description":"Variants.","questions":[{"text":"What are haemoglobins C, D, E, J and M, sickle cell-haemoglobin E disease and haemoglobin Constant Spring?","kind":"definition"},{"text":"Which entry fits the specific variant?","kind":"action"}]}]}]},{"id":"biology","name":"Biology","description":"Biology.","layers":[{"id":"structural","name":"Structural","description":"Structural variants.","findings":[{"id":"structural-finding","name":"Structural","description":"Structural.","questions":[{"text":"How do structural variants such as sickle haemoglobin arise?","kind":"provenance"},{"text":"Which references are standard?","kind":"provenance"}]}]},{"id":"thalassaemia","name":"Thalassaemia","description":"Thalassaemias.","findings":[{"id":"thalassaemia-finding","name":"Thalassaemia","description":"Thalassaemia.","questions":[{"text":"How do thalassaemias reduce globin chain production?","kind":"provenance"},{"text":"Which sources are cited?","kind":"provenance"}]}]}]},{"id":"epidemiology","name":"Epidemiology","description":"Distribution.","layers":[{"id":"malaria","name":"Malaria","description":"Malaria link.","findings":[{"id":"malaria-finding","name":"Malaria","description":"Malaria.","questions":[{"text":"Why are some haemoglobin traits common where malaria was endemic, as research attributes?","kind":"provenance"},{"text":"Is the presentation neutral and attributed?","kind":"boundary"}]}]},{"id":"screening","name":"Screening","description":"Screening.","findings":[{"id":"screening-finding","name":"Screening","description":"Screening.","questions":[{"text":"How do newborn and antenatal screening detect haemoglobinopathies?","kind":"provenance"},{"text":"Which entry fits newborn screening?","kind":"action"}]}]}]},{"id":"context","name":"Context","description":"Care.","layers":[{"id":"treatment","name":"Treatment","description":"Treatment approaches.","findings":[{"id":"treatment-finding","name":"Treatment","description":"Treatment.","questions":[{"text":"What general treatment approaches, including transfusion and newer therapies, do guidelines describe, with recommendations attributed?","kind":"provenance"},{"text":"Is the information current?","kind":"boundary"}]}]},{"id":"counselling","name":"Counselling","description":"Genetic counselling.","findings":[{"id":"counselling-finding","name":"Counselling","description":"Counselling.","questions":[{"text":"Why is genetic counselling important for haemoglobinopathies?","kind":"provenance"},{"text":"Which entry fits genetic counseling?","kind":"action"}]}]}]}]},"agentConduct":{"may":["Explain inherited structural haemoglobin variants and associated disorders, such as sickle cell disease.","Advise urgent care for warning signs of a sickle cell crisis, such as severe pain, fever or breathlessness."],"mustNot":["Diagnose a person or interpret their blood test.","Advise changing transfusion, chelation or other treatment.","Disclose a person's or family's carrier status without consent.","Use carrier rates to stigmatise ethnic groups."],"requiresHuman":["A clinician must make treatment decisions during a crisis.","Reproductive decisions based on carrier status require the people concerned."]},"ethics":{"considerations":["People with sickle cell disease often face disbelief about their pain.","Carrier screening touches communities with histories of discrimination."],"affectedParties":["People with haemoglobinopathies","Carriers and families","Communities with higher carrier rates"]},"owners":{"steward":"The person and their clinical team; screening programmes and registries hold records.","roles":[],"masterSystems":["Newborn screening and haemoglobinopathy registries"]},"relations":[{"target":"Q5160435","type":"parent","note":"registry parent class"},{"target":"congenital hemolytic anemia","type":"related","note":"in registry terms"},{"target":"sickle cell disease","type":"related"},{"target":"thalassemia","type":"related"},{"target":"iron-deficiency anemia","type":"related"}],"interaction":{"identity":{"applicability":"required","items":["Vercy registry: vr.tr.hemoglobinopathy","Wikidata: Q1642147 (https://www.wikidata.org/wiki/Q1642147)"]},"properties":{"applicability":"not-applicable","items":["two main groups: structural variants and thalassaemias list","malaria link: some traits protect against malaria note - attributed","registry parent: congenital hemolytic anemia note"]},"recognition":{"applicability":"optional","items":["This sense covers inherited defects that alter haemoglobin structure.","Examples include haemoglobin J, sickle cell-haemoglobin E disease, haemoglobin M disease, haemoglobin E, haemoglobin D disease and haemoglobin Constant Spring.","Anaemia generally is low haemoglobin from any cause, other inherited anaemias affect membranes or enzymes, and acquired changes are not genetic.","Not visible directly; identified by blood tests, haemoglobin analysis and genetics."]},"capabilities":{"applicability":"required","items":["explain variants and thalassaemias","relay inheritance and malaria link","describe named variants","route acute crises"]},"hazards":{"applicability":"required","items":["Acute sickle cell crises can require urgent care.","Including disorders solely of globin production would exceed this sense.","Carrier status can be missed."]},"interfaces":{"applicability":"required","items":["Newborn and antenatal screening programmes","WHO guidance on haemoglobin disorders"]},"context":{"applicability":"required","items":["Not applicable; a group of genetic blood disorders.","sickle cell disease","thalassaemias","other structural variants such as haemoglobin C, D, E","combined haemoglobinopathies"]}},"sources":[{"title":"Wikidata item Q1642147: hemoglobinopathy","url":"https://www.wikidata.org/wiki/Q1642147","note":"identity and sense of the item"},{"title":"Wikipedia: Hemoglobinopathy","url":"https://en.wikipedia.org/wiki/Hemoglobinopathy","note":"general description of the item"}],"openQuestions":["Should sickle cell disease and thalassaemia be separate entries?","How should screening programmes be linked?","How should the malaria link be attributed?"],"resources":{"spec":"/models/things/publications/thing-q1642147/spec.json"},"provenance":{"origin":"thing registry research (pass 2)","builtFrom":["models/things/publications/thing-q1642147/spec.json"],"providers":["Claude"],"researchStatus":"unreviewed","generatedAt":"2026-09-14T02:19:09Z","builder":"tools/build_cards.py@1.0.0"},"completeness":{"sections":{"classifiers":"filled","whatItIs":"filled","purpose":"filled","distinguishingFeatures":"filled","structure":"filled","agentConduct":"filled","ethics":"filled","owners":"filled","relations":"filled","interaction.identity":"filled","interaction.properties":"not-applicable","interaction.recognition":"filled","interaction.capabilities":"filled","interaction.hazards":"filled","interaction.interfaces":"filled","interaction.context":"filled","sources":"filled"},"notes":{"_gate":"Published through the thing publication gate 1.0 on 2026-10-07T10:10:26+00:00: completeness 1.00; sense: Wikidata description; 2 live sources; review by codex: pass","interaction.properties":"Plane INF: no invented physical properties."},"score":1.0}}