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)

A patient of 14 years suffering from secondary haemosiderosis and thalassaemia major was treated with i.v. desferrioxamine in doses up to 3 g/d. Urine iron loss ranged from 46-158 mg/d. Despite improvement in cardiac and hepatic status the patient developed acute renal insufficiency of the pre renal type. The possible role of desferrioxamine in this complication is discussed. Desferrioxamine given s.c. or i.v. effects a marked urinary iron loss but its use may not be without significant complications.
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PMID:Acute renal insufficiency occurring during intravenous desferrioxamine therapy. 45 59

Patients with homozygous beta-thalassemia are at increased risk of serious infections. Yersinia enterocolitica is an organism with a predilection for these and other iron-overloaded patients. Three young adult patients with beta-thalassemia who were chronically transfused and developed yersiniosis are reported. Iron overload and desferrioxamine use are predisposing factors, as supported by clinical, animal, and in vitro data. Iron excess both immunologically compromises the host and greatly enhances yersinial growth. Desferrioxamine may make host iron even more bioavailable to Yersinia. Recognition of this association and unusual manifestations in these patients such as an appendicitis-like syndrome may direct clinicians to earlier antiyersinial therapy and temporary cessation of chelation.
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PMID:Yersinia infections in patients with homozygous beta-thalassemia associated with iron overload and its treatment. 152 3

Iron-chelating treatment is indicated in all children on prolonged transfusion therapy (i.e., chiefly patients with thalassemia and Blackfan-Diamond anemia). The purpose of iron-chelating treatment is to prevent the development of manifestations of iron overload including cardiac hemosiderosis and insulin-dependent diabetes mellitus (which are two potentially fatal complications), hepatic cirrhosis, hypoparathyroidism, hypothyroidism, and delayed puberty. Deferoxamine is the only effective iron-chelating agent and should be given in a daily dose of 40 mg/kg at initiation of the transfusion program. Administration is by subcutaneous infusions from 8 to 10 hours per day. The goal of iron-chelating treatment is to maintain serum ferritin levels between 500 and 1,000 ng/ml. This long-term treatment is a significant burden for patients and it can be hoped that non-toxic iron-chelating agents, active by mouth, will become available.
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PMID:[Iron chelation in children]. 268 51

Iron chelation therapy must be associated with the regular blood transfusions required for thalassaemia and other chronic anemias. We report here a study concerning 4 groups of patients, aged 6 to 28, regularly transfused at Necker Enfants-Malades hospital: a) 20 with thalassaemia major; b) 6 with thalassaemia intermedia; c) 2 with sickle cell disease and d) 2 with Blackfan-Diamond syndrome. The transfusion regimen consisting of monthly or quarterly transfusions varied as a function of the groups. Desferal was used in all patients. The dosage and the route of administration (IV, IM, SC) were adapted to the amount of iron transfused and to the nature of the disease. The serum ferritin level was considered as the indicator of the iron overload. Comparisons were established between the quantities of iron transfused, ferritin levels, and parameters such as dosage, route of administration and compliance to Desferal. During the period of study 3 patients died from cardiac failure due to transfusional hemosiderosis. Endocrine complications (diabetes 2 cases, hypocalcemia 3 cases, hypothyroidism 1 case and delayed puberty 7 cases) were observed. This high incidence of complications induced by post-transfusional iron overload has recently prompted us to improve the quality of chelation therapy through the use of the services of a specialized center where patients as well as their families can be trained more adequately in home care and self-treatment.
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PMID:[Treatment of post-transfusion iron overload by deferoxamine]. 273 4

Desferrioxamine (DFO) plus ferrioxamine (FO) variations and alterations in plasma and urinary iron (Fe) levels were investigated in eight children with thalassaemia major during a 12-h s.c. DFO infusion at a dose of 40 mg/kg body weight. During the infusion, blood samples were regularly taken and total urine was also regularly collected in all patients. In the plasma, a mean DFO plus FO plateau level of 9 mg/l was reached after 4 h and remained steady in the subsequent 8 h. At 30 h the mean DFO plus FO concentration in plasma was still 4.5 mg/l. At 30 h, the urinary excretion ranged from 15% to 70% of the infused dose (mean: 42%). In plasma, the Fe concentration increased on average by 20% (range 10%-30%), remained steady during the DFO infusion, then returned to the basal level after 16-24 h. Urinary Fe excretion started early and still persisted 18 h after the infusion. The amount excreted at 30 h ranged from 5 to 27 mg (mean: 13.6 mg). This study emphasizes the delay in obtaining a DFO plus FO plateau in plasma, the important interindividual variations and the slow decrease of the drug after the end of the infusion. It points out the delay and the values of the urinary Fe excretion compared to the plasmatic and urinary drug variations.
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PMID:Studies of variations of subcutaneously infused desferrioxamine and iron movements in thalassaemia children. 274 11

Serial echocardiographic examinations were made to study the changes in left ventricular (LV) function and wall mass in 35 patients with thalassemia followed up for 5.5 +/- 2 years (mean +/- SD). Twenty patients received deferoxamine sulfate for 2.0 +/- 0.6 years (drug group) and 15 patients did not (nondrug group). Repeated blood transfusions were used to maintain the pretransfusion hemoglobin levels at 9 g/dL (90 g/L). Deferoxamine therapy improved LV function and decreased LV wall mass. Percentage shortening of LV diameter improved in the drug group (5.0% +/- 3.9%) and deteriorated in the nondrug group (-6.8% +/- 5.6%). Similarly, the maximum velocity of LV posterior wall motion improved in the drug group (16.1 +/- 20.1 mm/s) and deteriorated in the nondrug group (-18.3 +/- 19.0 mm/s). Left ventricular wall mass decreased in the drug group when compared with the nondrug group. In a subset of the drug group, pathologic natural deterioration in LV systolic function was reversed by treatment. Correlation studies indicated that frequent blood transfusions together with chelation therapy reduced LV dilatation and wall thickness, but blood transfusions alone did not have the same effect. Thus, treatment of patients with thalassemia with modest blood transfusions and deferoxamine can prevent deterioration and may even improve their LV systolic function, associated probably with arrest and reversal of the pathologic process that increases LV wall mass.
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PMID:Deferoxamine improves left ventricular function in beta-thalassemia. 377 67

Desferrioxamine was given intravenously, at higher doses than previously reported, to counter the effects of transfusion-induced iron overload in four patients with beta thalassaemia major. In two of them retinal abnormalities developed, presenting with night blindness and field defects, which improved on withdrawal of the drug.
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PMID:Ocular toxicity of high-dose intravenous desferrioxamine. 613 26

The effects of slow subcutaneous (s.c.) infusions of desferrioxamine (Desferal: DF) on iron metabolism and excretion were studied in 6 thalassaemia major patients in the course of a ferrokinetic study with 59Fe as a label; s.c. DF infusions were performed every 4th day starting 4 days after that of the 59Fe injection. Serum iron and total iron binding capacity (TIBC) increased after s.c. infusion, whereas serum ferritin levels remained unchanged. 59Fe urinary specific activity decreased in all subjects from the first to subsequent infusions, whereas faecal specific activity remained almost constant throughout the experiment. These data support the hypothesis that iron reaching RE cells concentrates initially in a readily chelatable pool from which then it moves to a larger and not readily chelatable pool, whereas iron reaching parenchymal hepatic cells remains permanently available to chelant.
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PMID:A study of the mechanisms and sites of action of desferrioxamine in thalassaemia major. 642 Oct 46

Thyroid function was evaluated in 20 patients aged 8-30 years who were suffering from homozygous beta-thalassaemia. All patients have been receiving frequent blood transfusions and treated for the resulting transfusional iron overload with intramuscular injections of Desferrioxamine. Total thyroxine (T4), T3-uptake, total triiodothyronine (T3), and reverse triiodothyronine (rT3) were measured. In addition a standard TRH stimulation test was performed and blood samples were checked for the presence of thyroid antibodies. It was found that total T4 was significantly lower in the patients than in the controls. Total T3 and rT3 levels were similar in both patients and controls and all patients were negative for thyroid antibodies. T3 uptake in the patients was also statistically different from the controls resulting in significantly lower free thyroxine index (FT1). Basal TSH values were not different from the controls but the TSH increase following TRH stimulation was significantly higher in the patients suggesting, together with the low total T4 and FTI, a state of compensated hypothyroidism.
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PMID:Thyroid function in patients with homozygous beta-thalassaemia. 642 76

We evaluated decreasing deferoxamine-induced urinary iron excretion during intensive chelation therapy in four children with thalassemia. Patients received daily intramuscular or subcutaneous therapy as well as intermittent intravenous infusions of high doses of DFO. Iron excretion fell by more than 80% in three patients and decreased by 45% in the fourth. Ferritin concentrations returned to normal or near normal values in all patients. Serum iron concentration and transferrin saturation steadily declined in one of four patients. Supplemental vitamin C was no longer required for normal vitamin C stores or maximum iron excretion in one patient after 26 months of chelation therapy. Interruption of chelation therapy was not followed by increased iron excretion after resumption of treatment with DFO. Decreasing DFO-induced iron excretion occurs during long-term, intensive chelation therapy, and may be the result of substantial reduction of excessive iron stores rather than of tachyphylaxis or transient depletion of an intracellular chelatable iron pool.
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PMID:Response to long-term deferoxamine therapy in thalassemia. 729 39


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