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

Pathologic findings in six beta-thal major, 58 beta-thal Hb E, and 12 Hb H patients were presented. The causes of death were mainly infection in the first and second decades and cardiac failure in older patients. There was accelerated intramedullary and extramedullary erythropoiesis, with a few cases showing focal fibrosis, some with decreased cellularity and occasional atypia. Iron deposition mirrored that of thal patients in the European and American literature, apart from minimal cardiac siderosis, and the correlation between the amount of iron deposited and dysfunction of the particular organ was not always apparent. Patients with Hb H disease showed a less extensive iron deposition and organ pathology than those with the other two types of thalassemia.
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PMID:Pathologic findings in 76 autopsy cases of thalassemia. 339 May 38

The liver in an infant or child is as liable to the same pathologies afflicting the adult liver but with certain differences in prevalence and causes. Genetic disorders are more likely to present in the paediatric age group where many involve metabolic processes such as galactosemia, phenylketonuria, glycogen storage disease and others. Many of these present in the newborn period. However, neoplasms and hamartomas also present in the newborn period, such as congenital neuroblastoma with an enormously enlarged liver, hepatoblastoma and haemangioma. The latter may present with intractable cardiac failure as a result of considerable shunting of blood. Acquired liver lesions often present in the newborn period or early infancy and this includes hepatitis and biliary atresia. The difficulties in the differentiation of the two lesions will be discussed together with the management of biliary atresia. As the child grows older, Reyes encephalopathy with microvesicular fat in the liver is not uncommon. The pathophysiology of Reyes encephalopathy as seen locally will be described. The choledochal cyst with direct (Caroli's disease) or indirect effect on the liver will be described. Problems of childhood portal hypertension as well as congenital hepatic fibrosis will be described. Hemosiderosis of the liver is chiefly seen in homozygous beta-thalassaemia patients who have been kept alive with repeated blood transfusions. Amoebic and pyogenic hepatitis, fatty liver due to protein malnutrition, biliary ascariasis, etc, which are common in tropical and subtropical countries are rarely seen now in Singapore children.
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PMID:Paediatric liver disorders in Singapore. 346 38

In a study of the outcome of marrow transplantation in patients with advanced thalassemia, 40 patients with homozygous beta-thalassemia who were 8 to 15 years of age (median, 10) received HLA-identical allogeneic marrow after treatment with busulfan and cyclophosphamide. Twenty-eight of the 40 patients were alive and free of disease 260 to 939 days after transplantation, and 2 patients were alive with thalassemia 372 and 1133 days after transplantation. The actuarial probabilities of survival and of disease-free survival at two years were 75 percent and 69 percent, respectively. Ten patients (25 percent) died. Three died of cardiac failure, interstitial pneumonitis, or septicemia within 14 days of transplantation. Three died of infectious complications associated with acute graft-versus-host disease at 46 to 97 days, and two died of infectious complications of chronic graft-versus-host disease at 249 and 290 days. Two patients had transplant rejection and died with marrow aplasia 115 and 192 days after transplantation. One patient had rejection after four months and while the marrow was aplastic underwent a successful second transplantation; the patient was alive without thalassemia 624 days after the first transplantation. The actuarial probability of grade 2 or higher acute graft-versus-host disease in the 32 patients with initial sustained engraftment was 35 percent. Three patients had chronic graft-versus-host disease, which was fatal in two and still active on day 710 in the third. We conclude that bone marrow transplantation can potentially save patients with advanced thalassemia from an otherwise inexorable progression to death from the complications of blood transfusions. The ultimate outcome in this group of patients must await a longer follow-up.
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PMID:Marrow transplantation in patients with advanced thalassemia. 355 Apr 63

We describe a patient affected by intermedia beta-thalassemia who presented a severe heart failure when she was 27 years old. The heart failure and radiologic, electrocardiographic and echocardiographic manifestations of cardiomyopathy disappeared with desferrioxamine therapy.
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PMID:[Severe cardiomyopathy in a woman with intermediate beta-thalassemia. Regression of cardiac failure with desferrioxamine]. 408 35

Up until recently in clinical practice suspected hemochromatosis with a pathological iron-screening test (plasma iron, percentage transferrin saturation, serum ferritin, desferrioxamine-induced urinary iron excretion) made a liver biopsy necessary. Today, as a first step, the density of the liver parenchyma can be measured by means of computed tomography. Normal findings obviate the need for laparoscopy. Since the late forties weekly or twice weekly phlebotomy has been the sole form of treatment for manifest idiopathic hemochromatosis. In the mid-sixties the hopes placed in chelating substances (desferrioxamine) were not fulfilled, because the plasma half-life (only 7-10 minutes) of this drug was too short. Even with several daily injections only a small amount of iron was removed from the body tissue (10-25 mg daily urinary iron excretion). The introduction of portable infusion pumps in the late seventies offered us a new possibility of administering desferrioxamine by subcutaneous injection (Propper et al., 1976). Until that time such treatment was successfully used only in the field of pediatrics to treat secondary transfusion hemochromatosis in thalassemia. In one case of idiopathic hemochromatosis with severe organic involvement (right heart failure, repeated esophageal hemorrhage and bronzed diabetes) we had to achieve rapid iron elimination, and for this purpose we used continuous long-term desferrioxamine administration by means of a portable infusion pump (Autosyringe) in addition to phlebotomy. Since, particularly in the critical initial phase of treatment when heart failure was always threatening, great care had to be exercised in the use of phlebotomy, iron removal was achieved largely by desferrioxamine administration (daily up to 240 mg iron elimination in urine and stools).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:New diagnostic and therapeutic possibilities in manifest idiopathic hemochromatosis. 651 41

Left-ventricular (LV) function was studied in 23 patients with anemia due to beta-thalassemia, of whom seven had thalassemia intermedia and the remainder thalassemia major. Two-thirds of the patients wih thalassemia intermedia and almost all the patients with thalassemia major were in clinical congestive heart failure. Despite this, resting measurements of ventricular size and systolic ventricular function were normal, indicating high-output cardiac failure. However, effort testing showed a flat response or decrease in the LV shortening fraction in patients with thalassemia major, and serial studies showed a decrease in the shortening fraction over a 4-yr period in some patients. LV diastolic function was studied by calculating peak LV filling rate and the pattern of LV filling in early diastole. Three patient with thalassemia major showed a pattern indicating abnormal LV distension. Since LV end-diastolic dimension was increased, volume overload was present in all patients. The results indicate that the following factors contribute to the genesis of cardiac failure in beta-thalassemia: 1) diminished response of systolic ventricular performance to exercise and later at rest; 2) ventricular volume overload; and 3) abnormal ventricular distension in diastole. Although the ventricular filling suggests abnormal LV compliance, the effect of right-ventricular volume overload or a pericardial factor cannot be excluded.
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PMID:Studies of left-ventricular function in anemia due to beta-thalassemia. 714 53

A new feature has been encountered in review of a large species of autopsy materials of beta-thalassaemia/Hb E disease. Among 43 patients pulmonary arterial obstructive lesions were found in 19 (44%), of which 17 were splenectomised cases. The pulmonary arterial thromboembolism may have been due to circulating platelet aggregates. This newly discovered pathology may be an additional factor contributing toward dyspnoea and heart failure in thalassaemia besides anaemia and cardiac iron deposition. If it is proven that this pulmonary arterial thromboembolism is indeed due to circulating platelet aggregates, preventive measure by administration of drugs reducing platelet aggregation such as aspirin and Persantin may be indicated, especially after splenectomy.
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PMID:Pulmonary artery obstruction in thalassaemia. 722 95

Thalassaemia major determines an impaired effort tolerance because of a condition of severe anaemia, progressive left ventricular dysfunction, pulmonary circulation compromise. The aim of our study is to evaluate haemodynamic response to exercise in thalassaemic patients without clinical features of heart failure. We have selected 13 patients affected by thalassaemia major (Thal+; 10-18 years). Each patient was transfused when haemoglobin values were < 9-9.5 g/dl and was treated with desferrioxamine (40 mg/kg sc) when serum ferritin values were > 2,000 ng/ml. Thal+ patients were compared with normal subjects (Thal- 10-16 years). No patient assumed hypotensive therapy, no had familiar history of hypertension. Both groups have undergone an ergometric stress test at the cycloergometer, with increase of 25 W every 2 min, up to the reaching of the maximum age-related heart rate, or up to muscle exhaustion or unbearable dyspnea, followed by a 10 min recovery phase. The following parameters were taken in consideration: systolic (SBP) and diastolic (DBP) blood pressure, heart rate (HR), the product of the heart rate by the systolic blood pressure (DP), at rest, at the maximum common work (MCW), at maximum stress and in the recovery phases. At rest, only DP showed significant differences between the two groups: in Thal+ patients higher than in Thal- (p = 0.045). At the MCW, Thal+ patients had SBP (p = 0.019), DBP (p = 0.01), HR (p = 0.035) and DP (p = 0.003) higher than Thal- patients. At maximum stress only DBP showed significant differences in Thal+ patients (p = 0.019), although Thal+ patients achieved lower levels of workload (p = 0.0001).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Cardiovascular adaptation to the stress test in subjects with Cooley's disease]. 780 70

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

Hematologic disorders are implicated in approximately 10% to 27% of cases of nonimmune hydrops fetalis. In almost all of these disorders, anemia leading to heart failure, edema, ascites, and anasarca is the final common denominator. The etiology of the anemia in these cases can be conveniently divided into two categories: (1) excessive erythrocyte loss by hemolysis or hemorrhage, and (2) erythrocyte underproduction. The former include intrinsic erythrocyte abnormalities such as alpha-thalassemia and glucose-6-phosphate dehydrogenase deficiency, and conditions with excessive fetal blood loss such as fetomaternal hemorrhage and twin-twin transfusion. The latter include bone marrow replacement syndromes and conditions associated with failure of erythrocyte production. The presentation, diagnosis, and management of hematologic disorders associated with nonimmune hydrops fetalis are reviewed.
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PMID:Hematologic disorders and nonimmune hydrops fetalis. 882 34


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