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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We present the case of a 35-year-old man with a history of beta-thalassemia complicated with heart failure who was admitted to our department because of right arm painful swelling. A transthoracic echo-Doppler study revealed a mass within the right jugular vein (RJV) lumen and absence of flow within the right subclavian vein (RSV). Subsequently, color tissue Doppler echocardiography clearly demonstrated the intraluminal mass by means of its different color hues as compared with the surrounding vessel wall, further enforcing the suspicion of upper extremity vein thrombosis (UEVT). It is emphasized that tissue Doppler echocardiography, a safe and reproducible method, can contribute to the diagnosis of UEVT.
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PMID:Tissue Doppler echocardiography contribution to the diagnosis of upper extremities venous thrombosis. 1115 18

Heart failure remains the main cause of death in beta-thalassemia despite the progress that has been made. Myocardial iron deposition alone does not affect left ventricular relaxation but directly causes left ventricular myocardial restriction with considerably elevated pulmonary pressure. This leads to symptoms and signs of predominantly right-sided heart failure, which is usually observed in elderly and severely hemosiderotic populations. Left ventricular systolic dysfunction and failure, which occurs in younger, less hemosiderotic populations, seems to be multifactorial in etiology. Apart from iron loading, immunogenetic risk factors trigger the mechanisms of left-sided heart failure development in the context of dilated-type cardiomyopathy. (c)2001 CHF, Inc.
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PMID:Heart failure in beta-thalassemia. 1182 76

A six-year-old boy was diagnosed with beta-thalassaemia major during infancy. Since then, he required monthly blood transfusion and irregular iron chelation therapy. He had hepatosplenomegaly and elevated liver enzymes; the serum ferritin was up to 3800 ng/mL. An echocardiogram showed left-ventricular enlargement. His one-antigen-mismatched mother was chosen as a bone marrow donor. He was pretreated with intensive red blood cell transfusion and hydroxyurea for 6 weeks prior to conditioning. The conditioning included total body irradiation (300 cGy), busulfan (14 mg/kg), cyclophosphamide (160 mg/kg) and anti-thymocyte globulin (rabbit; 90 mg/kg). Marrow cell dose was 5.4 x 108/kg. Graft versus host disease (GVHD) prophylaxis included cyclosporine A (CSA) and methylprednisolone. Neutrophil engraftment occurred on day 23. Grade II acute GVHD occurred on day 45. The patient developed complications including septicaemia, haemorrhagic cystitis, intracranial haemorrhage and heart failure. He subsequently recovered from the complications without sequelae. The patient remained transfusion-independent at a follow-up examination after 18 months. This case suggested that a mismatched family member may be considered as a bone marrow donor for beta-thalassaemia major. In places where conventional treatment is not feasible, for example, in China, this approach may be an alternative option. A more intensive immunosuppressive regimen and a higher marrow cell dose may be important for successful engraftment. High-dose anti-thymocyte globulin may also prevent severe GVHD.
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PMID:Bone marrow transplantation for beta-thalassaemia major by an HLA-mismatched parent. 1204 3

Iron deposition in the heart occurs in beta-thalassaemia major and contributes to cardiac dysfunction. Eighteen patients with beta-thalassaemia major were assessed clinically and had non-invasive investigations. They were young (15.5 +/- 3.6 years). Two patients had clinical heart failure. Doppler echocardiography demonstrated higher transmitral peak flow velocity in early and late diastole compared with controls (e: p<0.05, a: p<0.01). Transtricuspid peak late diastolic flow velocity was higher in patients (p<0.005). Isovolumic relaxation time was shortened (p<0.001). Pulmonary venous flow velocity was higher in diastole than systole (S: 0.51 +/- 0.11 m/s, D: 0.62 +/- 0.08 m/s). Reversal of pulmonary venous flow during atrial systole was seen in eight patients. These diastolic filling abnormalities did not significantly change with blood transfusion. Left ventricular ejection fraction was normal in patients. Two patients had cardiomegaly on chest X-ray. In beta-thalassaemia with iron overload, there is a restrictive pattern of diastolic dysfunction. This is not altered by recent blood transfusion. Left ventricular function remains relatively intact.
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PMID:Non-invasive cardiac assessment in beta-thalassaemia major. 1213 42

Prenatal administration of iron and folate can prevent nutritional anemia and boost the hemoglobin of those who are already anemic, strengthening women for delivery and building their resistance against infection. Regular screening is needed, since women with more than mild anemia need additional treatment. Ideally a woman should have a hemoglobin level of at least 110 g/l by the time of delivery. Many lack the iron stores they need for pregnancy, delivery, and lactation. Yet prenatal administration of oral iron supplements could give them higher hemoglobin levels and adequate stores. Folate deficiency is less important as a cause of anemia than lack of iron, but folate needs are increased by malaria, thalassemia, and sickle cell disease. Malaria causes severe complications in pregnancy, and studies from sub-Saharan Africa report malaria parasite rates 30-40% higher in primigravidae than in nonpregnant women. Persistent infection increases the level of anemia. Where intestinal parasites are common, anthelmintic drugs should be routinely given to all pregnant women. The transmission of HIV by blood transfusion makes it more urgent to prevent anemia and avoid the need for blood transfusions. According to a WHO document in southern Asia, 75% of pregnant women are anemic compared with 17% in Europe and North America. In Africa, 50% of pregnant women are anemic, as are 39% in Latin America and 71% Oceania (excluding Australia and New Zealand). Moderate anemia (70-109 g/l) is estimated to be present in 25-33% of pregnant women, with the highest prevalence in Southern Asia, Oceania, and Sub-Saharan Africa. Surveys show that from 3-7% of women suffer from severe anemia 70 g/l), which carries a high risk of death from heart failure. In pregnant women, even the relatively small blood loss associated with a normal delivery can result in death.
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PMID:Anaemia -- the weak get weaker. 1228 38

Effective management of iron overload in thalassaemia requires monitoring both for iron toxicity and the effects of excessive chelation. Careful monitoring together with adherence to established regimens using desferrioxamine (DFO) results in a 78% survival rate at 40 years of age at UCLH, with steadily improving survival as progressive cohorts receive chelation earlier in life. By contrast, survival is considerably below this in non-specialist centres. The prognostic significance of the measures being used in monitoring should be known so that decisions about chelation management are evidence-based. Serum ferritin measurement, although easy to perform frequently, is subject to variability and falsely high or falsely low values in relation to body iron are frequently obtained. However, there is evidence that persistently high ferritin values above 2500 microg/l have poor prognostic significance in patients treated with DFO. Liver iron predicts total body iron in a more predictable way than serum ferritin in thalassaemia. Liver iron concentrations of 15 mg/g dry weight appear to predict those patients who develop heart failure in subjects treated with DFO. The prognostic significance of this measurement or indeed other measurements of iron overload in patients treated with other chelation regimens is not known. Recent advances with MRI imaging have aroused interest in its use for monitoring patients with thalassaemia. A recent publication suggests a relationship between left ventricular ejection fraction and cardiac T2*, the value of which shortens with increasing iron concentrations in the liver and hence by inference in the heart. The prognostic value of this technique has not yet been demonstrated in prospective studies and hence changes in therapy based on this measurement alone should be considered with caution at this time. The value of monitoring to decrease morbidity from iron overload is also discussed, particularly with reference to the estimation of iron deposition in the pituitary.
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PMID:Monitoring chelation therapy to achieve optimal outcome in the treatment of thalassaemia. 1240 11

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

Heart failure from iron overload causes 71% of deaths in thalassaemia major, yet reversal of siderotic cardiomyopathy has been reported. In order to determine the changes in myocardial iron during treatment, we prospectively followed thalassaemia patients commencing intravenous desferrioxamine for iron-induced cardiomyopathy during a 12-month period. Cardiovascular magnetic resonance assessments were performed at baseline, 3, 6 and 12 months of treatment, and included left ventricular (LV) function and myocardial and liver T2*, which is inversely related to iron concentration. One patient died. The six survivors showed progressive improvements in myocardial T2* (5.1 +/- 1.9 to 8.1 +/- 2.8 ms, P = 0.003), liver iron (9.6 +/- 4.3 to 2.1 +/- 1.5 mg/g, P = 0.001), LV ejection fraction (52 +/- 7.1% to 63 +/- 6.4%, P = 0.03), LV volumes (end diastolic volume index 115 +/- 17 to 96 +/- 3 ml, P = 0.03; end systolic volume index 55 +/- 16 to 36 +/- 6 ml, P = 0.01) and LV mass index (106 +/- 14 to 95 +/- 13, P = 0.01). Iron cleared more slowly from myocardium than liver (5.0 +/- 3.3% vs. 39 +/- 23% per month, P = 0.02). These prospective data confirm that siderotic heart failure is often reversible with intravenous iron chelation with desferrioxamine. Myocardial T2* improves in concert with LV volumes and function during recovery, but iron clearance from the heart is considerably slower than from the liver.
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PMID:Myocardial iron clearance during reversal of siderotic cardiomyopathy with intravenous desferrioxamine: a prospective study using T2* cardiovascular magnetic resonance. 1549 Dec 98

The thalassemias are common monogenic disorders of hemoglobin synthesis. beta-thalassemias are the most important among the thalassemia syndromes and have become a worldwide clinical problem due to an increasing immigrant population. In beta-thalassemia major, regular blood transfusions are necessary early in life. Beta-thalassemia intermedia refers to a less severe phenotype, whereas beta-thalassemia/hemoglobin E disease encompasses a broad phenotypic spectrum. Blood transfusions and increased gastrointestinal iron absorption result in iron overload and tissue damage. Among patients with beta-thalassemia major, biventricular, dilated cardiomyopathy remains the leading cause of mortality. In some patients, a restrictive type of left ventricular cardiomyopathy or pulmonary hypertension is noted. The clinical course, although variable and occasionally fulminant, is more benign in recent than in older series. Myocarditis has been described as a cause of left-sided heart failure in younger patients. Pulmonary arterial hypertension is the principal cause of heart failure in beta-thalassemia intermedia. Chelation therapy has improved prognosis in beta-thalassemia major both by reducing the incidence of heart failure and by reversing cardiomyopathy. Estimation of the patient's cardiac risk is mainly based on clinical criteria and serial echocardiography. A new cardiovascular magnetic resonance technique will probably fulfill the need for more precise risk stratification in beta-thalassemia syndromes. By increasing the proportion of patients on optimal chelation, survival in beta-thalassemia major may further improve. Recent advances in gene therapy are expected to result in the long-awaited cure of this disease.
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PMID:Heart failure in beta-thalassemia syndromes: a decade of progress. 1616 78

Beta-thalassemia major is a severe, transfusion-dependent anemia that also causes infertility due to iron deposition to endocrine organs after overtransfusion. Very few pregnancies have been reported among such patients after modern therapies. In this study, 32 women with thalassemia who were admitted to Ali Asghar Children's Hospital and Thalassemia Clinic conceived spontaneously following prolonged intensive treatment with hypertransfusion and iron chelation. The aim of this study was to estimate the fertility (spontaneous ovulation or induced ovulation) and pregnancy complications for mothers and newborns. These complications included cardiac failure, endocrine and hepatic parameters monitored throughout pregnancy and postpartum, viral infections, term and preterm deliveries, and complications of pregnancy. All case notes were examined and data were analyzed with SPSS software. Twelve babies were delivered by elective cesarean section and the remainder were delivered vaginally. The mean birthweight was 2678 g. All babies were normal; 45 cases were mature and 5 were preterm; 12 cases were aborted spontaneously. Twenty-seven mothers had no cardiac problems, but 5 had cardiac failure. Pregnancy can be safe for mothers and babies in women started early on intensive treatment.
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PMID:Pregnancy in patients treated for beta thalassemia major in two centers (Ali Asghar Children's Hospital and Thalassemia Clinic): outcome for mothers and newborn infants. 1632 10


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