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)

In patients with Thalassaemia Major the iron overload with alteration both of systolic and diastolic properties of left and right ventricles finally leads to symptoms of cardiac failure and is the most frequent cause of death in these patients. In the majority of asymptomatic thalassemic patients with normal myocardial mass it is possible to demonstrate an alteration of the diastolic function both with echocardiographic study and with radionuclide angiography (subclinical cardiac disease). We have also demonstrated in "ex thalassemics" with stable and heavy iron overload in the subclinical cardiac disease phase a subnormal systolic function and a slight impairment of the contractility state. Therefore our purpose was to evaluate cardiac performance emphasising the contractility properties of the left ventricle during moderate inotropic stimulation with dobutamine in thalassemic patients in subclinical cardiac disease. We are now also using this test to evaluate cardiac performance in adults thalassemic patients as a screening for marrow transplantation procedure. Dobutamine is a sympathomimetic drug (beta 1 agonist) that increases myocardial contractility and at high doses also systolic arterial blood pressure and heart rate. The half-life is extremely short and at low doses the drug has no major side effects. Continuous intravenous dobutamine infusion is largely used in the therapeutic field to treat cardiac failure and it is reported to be a very efficacious and safe therapeutic agent. Recently dobutamine stress echocardiography was reported to be an accurate non-invasive diagnostic technique for detecting cardiac dysfunction in adults with coronary artery disease (Dobutamine is used for this purpose at high dose to increase the myocardial oxygen consumption).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Cardiac study by dobutamine stress echocardiography in thalassemic patients. 837 53

Until recently, infectious diseases and malnutrition-related disorders constituted the major cause of ill health and mortality in the world population. However, advances in treatment of such disorders and increased understanding of the molecular basis of heredity have led to genetically transmitted conditions becoming a major cause of morbidity and mortality. Several disorders, including chromosomal (Down syndrome, Turner syndrome), single-gene (sickle-cell disease, thalassaemia, glucose-6-phosphate dehydrogenase deficiency, haemophilia, inborn errors of metabolism) and multifactorial disorders (coronary artery disease, arteriosclerosis, diabetes mellitus, hypertension, obesity) are common and becoming increasingly important. As there is no agreed-upon definitive cure with acceptable risk, these disorders are a significant burden on the health care delivery system. This is because the chronic nature of genetic diseases requires lifelong medical attention, expensive supportive and symptomatic therapy and specialist care. This review outlines the genetic disorders, their impact on health care delivery systems and the general framework required to prevent and control these disorders.
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PMID:Spectrum of genetic disorders and the impact on health care delivery: an introduction. 1192 97

Hypertension, hypercholesterolemia, and coronary artery disease are among the risk factors of cerebrovascular accidents. After age, hypertension is the most powerful stroke risk factor. Abnormalities of serum lipids are regarded as risk factors for cerebrovascular accidents. A significant reduction in stroke risk among persons treated with cholesterol-reducing medicines known as statins are reported. Stroke risk nearly doubles in those with antecedent coronary artery disease. Moreover, polycythemia and high hematocrit levels are considered to be potential stroke risk factors. Minor thalassemia is associated with decreased prevalence of arterial hypertension and myocardial infarction (the second effect observed only in males.) Total cholesterol and LDL levels are lower in minor thalassemics, as is the blood viscosity. Therefore, it could be hypothesized that minor thalassemia could afford some protection against cerebrovascular accidents.
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PMID:Minor thalassemia as a protective factor against cerebrovascular accidents. 1220 71

Thalassemia is the most common hereditary anemia throughout the world. Survival in its most severe long-term form, beta-thalassemia major, has significantly risen in the last decades. Cardiac morbidity-heart failure and dysrhythmias-is still the most common cause of mortality in these patients. We describe herein a case of myocardial infarction with normal coronary arteries in a 48-year-old patient with beta-thalassemia and no other recognized risk factors for coronary artery disease. Thromboembolic phenomena, a known situation in these patients, occur at a frequency of 4-5%. However, as far as we know, this is the first report in the literature of myocardial infarction in association with beta-thalassemia. With the notable improvement in the life expectancy of thalassemia patients, ischemic heart disease may become an important complication encountered in these patients.
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PMID:Myocardial infarction in a patient with beta-thalassemia major: first report. 1469 33

With a very large population and high birth rate, and consanguineous marriage favoured in many communities, there is a high prevalence of genetic disorders in India. An estimated 495,000 infants with congenital malformations, 390,000 with G6PD deficiency, 21,400 with Down syndrome, 9,000 with beta-thalassaemia, 5,200 with sickle cell disease, and 9,760 with amino acid disorders are born each year. The prevalence of late-onset multi-factorial disorders (including coronary artery disease, hypertension and psychiatric disorders) is also large. Due to inadequate diagnostic, management and rehabilitation facilities, the burden of these disorders is greater than in Western countries. Although genetic diseases receive little attention from the health services, research funding by the government has been liberal. Community control of common disorders like thalassaemia, Down syndrome, neural tube defects, and muscular dystrophies deserves high priority, and genetic services should be integrated into the existing primary health care and medical services. Most genetic counselling would have to be provided through training physicians who staff the district and medical school hospitals. To ensure future progress, there is a need to establish additional departments of medical genetics in medical schools.
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PMID:The burden of genetic disorders in India and a framework for community control. 1496 Aug 91

Significant amounts of di(2-ethylhexyl) phthalate (DEHP) leach out into blood stored in DEHP plasticized polyvinyl chloride (PVC) bags resulting in the exposure of recipients of blood transfusion to this compound. The aim of this study was to find out whether DEHP at these low levels has any effect on the activity of membrane Na(+)-K+ ATPase, since a decrease in this enzyme activity has been reported to take place in a number of disorders like neurodegenerative and psychiatric disorders, coronary artery disease and stroke, syndrome-X, tumours etc. DEHP was administered (ip) at a low dose of 750 microg/100 g body weight to rats and the activity of membrane Na(+)-K+ ATPase in liver, brain and RBC was estimated. Histopathology of brain, activity of HMG CoA reductase (a major rate limiting enzyme in the isoprenoid pathway of which digoxin, the physiological inhibitor of Na(+)-K+ ATPase is a product), intracellular concentration of Ca2+ and Mg2+ in RBC (which is altered as a result of inhibition of Na(+)-K+ ATPase) were also studied. (In the light of the observation of increase of intracellular Ca2+ load and intracellular depletion of Mg2+ when Na(+)-K+ ATPase is inhibited). Histopathology of brain revealed areas of degeneration in the rats administered DEHP. There was significant inhibition of membrane Na(+)-K+ ATPase in brain, liver and RBC. Intracellular Ca2+ increased in the RBC while intracellular Mg2+ decreased. However activity of hepatic HMG CoA reductase decreased. Activity of Na(+)-K+ ATPase and HMG CoA reductase, however returned to normal levels within 7 days of stopping administration of DEHP. The inhibition of membrane Na(+)-K+ ATPase activity by DEHP may indicate the possibility of predisposing recipients of transfusion of blood or hemodialysis to the various disorders mentioned above. However since this effect is reversed when DEHP administration is stopped, it may not be a serious problem in the case of a few transfusion; but in patients receiving repeated blood transfusion as in thalassemia patients or patients undergoing hemodialysis, possibility of this risk has to be considered. This inhibition is a direct effect of DEHP or its metabolites, since activity of HMG CoA reductase, (an enzyme which catalyses a major rate limiting step in the isoprenoid pathway by which digoxin, the physiological inhibitor of Na(+)-K+ ATPase is synthesized) showed a decrease.
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PMID:Inhibition of membrane Na(+)-K+ Atpase of the brain, liver and RBC in rats administered di(2-ethyl hexyl) phthalate (DEHP) a plasticizer used in polyvinyl chloride (PVC) blood storage bags. 1524 77

Six hundred and thirty-eight patients who presented with clinical symptoms and/or electrocardiographic findings suggestive of stable angina pectoris were studied; they were also investigated by coronary arteriography. Hemoglobin electrophoresis was performed on all patients to detect the presence of the beta-thalassemia trait. Results were analyzed by logistic regression analysis to determine whether the latter confers any protective effect against advanced coronary artery disease (aCAD; defined as the presence of atheromas in coronary arteries, resulting in stenosis at least 70%). The role of the currently accepted risk factors (smoking, hypertension, hypercholesterolemia, and diabetes) in developing aCAD were reconfirmed, while at the same time it was found that beta-thalassemia heterozygosity is associated with a reduced risk against aCAD (odds ratio 0.39, 95% confidence interval 0.16-0.98). The lipoprotein and blood rheology profile of these individuals may be the underlying causes of this protective effect.
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PMID:Does heterozygous beta-thalassemia confer a protection against coronary artery disease? 1633 99