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

Haemosiderosis is the most common cause of death in patients with thalassaemia major because of haemolysis and the necessary repeated transfusions. It is possible to reduce the lethal iron burden by means of iron-chelating agents. We combine a two-day-high-transfusion-regimen of packed cells with the application of high doses of desferrioxamine (500 mg/kg body weight) intravenously. This way we achieve good iron elimination with minimal psychological stress situations.
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PMID:[Recommendations for therapy of juvenile thalassemia major]. 700 89

New developments in the symptomatic treatment of beta-thalassaemia major are expected to improve the quality of life and survival of the patients. However, there are still many problems related to the clinical management of the patients due to the severity of the disease per se and the complications of blood transfusion and iron overload. Some of the problems related to the treatment of hypersplenism, post-transfusion complications, bone manifestations, hormonal deficiencies and haemosiderosis are reviewed in the light of recent investigations.
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PMID:Problems related to treatment of beta-thalassaemia major. 704 74

A patient with thalassemia intermedia and haemosiderosis is reported. This patient did not receive transfusions or iron therapy. The iron absorption and the plasma iron turnover (PIT) were increased. Transfusions were carried out in order to decrease the amount of abnormal erythropoiesis. After that, the erythropoietin and PIT were decreased to normal levels and the iron absorption also returned to normal. The data presented suggest that increased erythropoiesis was responsible for the abnormally high iron absorption and subsequently for the haemosiderosis of the patient presented.
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PMID:Iron overload in a non-transfused patient with thalassaemia intermedia. 708 77

A 13-year-old boy with homozygous beta-thalassemia who developed clinically manifest and biochemically proven hypoparathyroidism is described. The latter disease was attributed to hemosiderosis. Laboratory abnormalities were corrected after 1 alpha-hydroxy-vitamin D3 was administered.
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PMID:A case of hypoparathyroidism in a child with beta-thalassemia successfully treated with 1 alpha-hydroxy-vitamin D3. 725 88

We have found bioassayable somatomedin activity to be subnormal in 20 of 32 children and adults with beta-thalassemia. The levels were comparable to values reported in growth hormone-deficient subjects. Since patients with thalassemia are not growth hormone deficient, the data suggest the possibility of defective hepatic biosynthesis of somatomedin. Increased iron stores in these patients, who have secondary hemosiderosis of many organs, including the liver, may depress somatomedin activity. Therapy for one year with daily subcutaneous infusions of the iron-chelating agent deferoxamine had no effect on mean bioassayable serum somatomedin activity.
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PMID:Depressed serum somatomedin activity in beta-thalassemia. 735 82

With migration, beta-thalassaemia has become a world health problem. Research into its nature and management is being performed in many countries. Where transfusion services are readily available, new intensive transfusion programmes are being attempted and result in better general health, and inhibition or delay in the onset of bone changes and hepatosplenomegaly. Intravenous and subcutaneous infusions of desferrioxamine now offer possible reduction in transfusional haemosiderosis. Prenatal diagnosis of beta-thalassaemia is now possible. Techniques for fetal blood sampling and laboratory investigation are being perfected in a number of centres.
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PMID:Advances in the management of homozygous beta-thalassaemia, including desferrioxamine infusion therapy and prenatal diagnosis. 739 13

Life expectancy of patients suffering from homozygous beta-thalassaemia has been improved due to the modern treatment of this disease. This has allowed development of late hemosiderosis-related complications and disturbances of the endocrine and exocrine functions of the pancreas. Carbohydrate metabolism of 16 patients with thalassaemia major was studied. Three of them presented with a pronounced clinical picture and biochemical constellations of a severe diabetes mellitus. The remainder had no clinical symptoms of carbohydrate metabolism disorders. The pancreatic beta-cell function of the patients was assessed by measuring the serum concentrations of immunoreactive insulin and by a glucose tolerance test. Most patients showed very low basal insulin levels while glucose tolerance was reduced in only one of them. In this patient we also established delayed insulin response after an intravenous glucose load. We concluded that the disturbed insulin secretion found in the children studied is most likely the earliest manifestation of the pancreatic beta-cell insufficiency which precedes the changes in the glucose tolerance.
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PMID:Secondary diabetes in children with thalassaemia major (homozygous thalassaemia). 786 89

After successful bone-marrow transplantation (BMT) in thalassaemia, the individual acquires the pattern of globin synthesis of the donor. We call such an individual "ex-thalassaemic after BMT", a term that underscores the cure of the genetic defect but maintenance of residual signs of organ damage due to iron overload and dysfunction acquired during the pretransplant years. We have analysed the extent and fate of tissue iron overload in 151 ex-thalassaemic patients after BMT, according to the risk factors of hepatomegaly, hepatic portal fibrosis, and inadequate chelation therapy. Serum ferritin concentrations decreased and unbound iron binding capacity (UIBC) increased slowly during the years after the transplant. When analysed according to risk group (assigned at the time of the transplant), ferritin and UIBC returned within the normal ranges in only the low-risk group (without hepatomegaly or portal fibrosis, and with adequate chelation pre-BMT). Ferritin and UIBC were still abnormal 7 years after the transplant in the moderate-risk group (those with one or two risk factors) and highly abnormal in the high-risk group (all three risk factors) indicating persistence of, respectively, moderate and severe iron overload at the time of transplant. In ex-thalassaemic patients who were studied before and yearly after the transplant the extent of haemosiderosis, as judged by staining of liver biopsy samples, decreased during the years after transplant. The degree of iron deposition and rate of post-BMT linear growth seem to influence rate of post-BMT decrease in tissue iron overload in different risk groups at the time of BMT.
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PMID:Fate of iron stores in thalassaemia after bone-marrow transplantation. 790 61

Up to the mid-1960s, beta-thalassemia was treated with blood transfusions as frequent as needed to keep symptoms under control and to prevent transfusional hemosiderosis. In the following years, high transfusion regimens and iron chelation therapy with desferrioxamine were used. Because of these different treatment modalities, skeletal findings in thalassemia have markedly changed. In the past, thalassemic patients treated with a low transfusion regimen and without chelation therapy developed osteopenia--with widened medullary spaces, cortical thinning and trabecular atrophy--secondary to chronic expansion of red marrow, due to increased erythropoietin response to chronic anemic hypoxia. Typical radiographic patterns in the skull included widened diploic space, atrophic-especially outer--tables and, in some patients, the "hair-on-end" pattern. As for the face, obliteration of the paranasal sinuses and the typical "rodent facies" were observed. In the ribs, bulbous expansion of the posterior and anterior segments and the "rib within a rib" patterns were observed. As for the spine, coarse trabecular arrangement was seen. The "cobweb" pattern was seen in the pelvis and finally the lack of the normal concave outline was observed in the long bones. In the patients treated with high transfusion regimens and iron chelation therapy over the last 30 years, both skull anomalies and disfigurement are less frequent. The skull is almost normal, with the exception of osteopenia and thickened diploic space in the frontal bone only; the paranasal sinuses are usually not obliterated. The hands and rib are normal, just like long bones, pelvis, scapulae and vertebral bodies. Nevertheless, in some adequately treated patients new skeletal features have been recently observed in the long bones, which are similar to those occurring in rickets and/or scurvy, and in the vertebral bodies, resembling platyspondylia. These abnormal features might be caused by several factors--i.e., marrow expansion, transfusion regimens, direct/indirect effects of desferrioxamine, iron load, endocrine abnormalities, deficiency of some minerals and finally dysvitaminoses. Nevertheless, osteopenia remains the main negative factor of thalassemia.
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PMID:[The evolutionary effects of therapy on the skeletal lesions in beta-thalassemia]. 819 Sep 18

The physiological role of GH secretion on growth retardation remains to be elucidated especially in patients with beta-thalassemia. In the present study, we investigated IGF-1 circulating levels as well as GH release following GHRH alone or combined with some inhibitors of somatostatin: pyridostigmine and arginine. In thalassemic patients lower IGF-1 circulating levels appear to be negatively correlated with both aspartate aminotransferase and alanine aminotransferase as well as with ferritin circulating levels indicating a probable role of hepatic hemosiderosis in IGF-1 production. The authors however suggest that reduced IGF-1 secretion is not the main cause of growth retardation since this would have elicited an enhanced response of GHRH in the presence of a normal hypothalamic pituitary axis. In contrast, they noticed that GH response to GHRH when expressed as area under the curve was lower in thalassemic patients compared to controls. The combination of GHRH with either pyridostigmine or arginine induced a GH secretion in thalassemics which was comparable to that of controls. The results of this study lead to conclude that the alteration of GH secretion is due, in such patients, to an increased somatostatin activity.
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PMID:GH secretion in thalassemia patients with short stature. 852 76


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