Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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

Whereas the role of the cardiac natriuretic peptides, ANP and BNP, in some aspects of physiology and pathophysiology is clear, their potential in diagnosis, prognosis, and therapeutics in many clinical disorders remains uncertain. We predict that circulating levels of these peptides will find increasing diagnostic utility in patients presenting with dyspnoea, in guiding the complex pharmacotherapy in heart failure, and may likewise be useful in guiding the management of patients on chronic maintenance renal dialysis. We predict also that levels of these peptides will be of practical use as prognostic indicators in 'at-risk' populations (such as those with diabetes, coronary heart disease, hypertension, thalassaemia, etc.) but probably not in the general population. It appears likely that administration of these peptides will find a place in the therapeutics of acute myocardial infarction, but this is less clear for heart failure. We describe the presence of a segment of the signal peptide for BNP within the circulation and discuss its potential clinical utility.
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PMID:B-type natriuretic peptides: looking to the future. 2096 Dec 74

The present paper aims to review the main pathophysiological links between red blood cell disorders and cardiovascular diseases, provides a brief description of the latest studies in this area, and considers implications for clinical practice and therapy. Anemia is associated with a special risk in proatherosclerotic conditions and heart disease and became a new therapeutic target. Guidelines must be updated for the management of patients with red blood cell disorders and cardiovascular diseases, and targets for hemoglobin level should be established. Risk scores in several cardiovascular diseases should include red blood cell count and RDW. Complete blood count and hemorheological parameters represent useful, inexpensive, widely available tools for the management and prognosis of patients with coronary heart disease, heart failure, hypertension, arrhythmias, and stroke. Hypoxia and iron accumulation cause the most important cardiovascular effects of sickle cell disease and thalassemia. Patients with congenital chronic hemolytic anemia undergoing splenectomy should be monitored, considering thromboembolic and cardiovascular risk.
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PMID:Mechanisms linking red blood cell disorders and cardiovascular diseases. 2571 19