Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Genetic approaches have become an important component of both fundamental and disease-oriented research. Certain diseases of the blood--the hemoglobinopathies--have been elucidated by the spectacular methods of molecular genetics. Some of these advances have already been incorporated in disease management. Often, common conditions such as coronary heart disease and hypertension show familial aggregation. Genetic analysis of these diseases together with biochemical and molecular methods are likely to be useful for further understanding and ultimate prevention and control.
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PMID:The 'new genetics' in blood and cardiovascular research: applications to prevention and treatment. 659 38

This study explored the value of informing beta-thalassaemia carriers of the advantages, as well as the disadvantages of carrier status. Twenty-eight carriers of beta-thalassaemia were interviewed immediately after counselling, and again 2 weeks later. Both interviews included administration of a psychological scale (previously used for cystic fibrosis). Immediately after the first interview the intervention group (n = 18) were informed of the protective effect of the beta-thalassaemia trait against malaria and coronary heart disease. The control group (n = 10) was given the same information after the second interview. The effect of giving the positive information was assessed by comparing participants' scores at the first and second interview. Knowledge of carrier status aroused several negative feelings, including shock, sadness, and anger, but little feeling of stigmatization. Two weeks later, negative feelings were unchanged in the control group, but they were reduced in all members of the intervention group. All members of the intervention group considered it important to inform carriers of the positive aspects as well as the risks associated with carrier status. Carriers of recessive disorders with a known heterozygote advantage should be informed of the advantage. This information has now been incorporated into the comprehensive information system for hemoglobin disorders available at http://www.chime.ucl.ac.uk/ApoGI/.
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PMID:Informing carriers of beta-thalassemia: giving the good news. 1534 6