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

Some routine red blood cell (RBC) measurements and indexes (count, mean volume, volume dispersion, and mean hemoglobin [HGB] concentration) can be used to differentiate iron deficiency from heterozygous beta-thalassemia. A number of formulas that incorporate two or more of these measurements have been described to amplify such differences. The H*1 hematology analyzer directly measures volume and HGB concentration of individual RBCs. We have assessed the diagnostic usefulness of conventional and new RBC measurements provided by the H*1 on a learning data set that comprised 119 patients with iron deficiency and 172 patients with beta-thalassemia trait, both untreated and uncomplicated. The most striking finding was the inverse behavior of percentages of microcytes (volume, less than 60 fL) and hypochromic RBCs (HGB concentration, less than 280 g/L) in the two conditions. In 162 of 172 patients with beta-thalassemia trait, the percentage of microcytes (mean, 33.1%; central 95th percentile range, 9.2% to 54.5%) was higher than the percentage of hypochromic RBCs (mean, 13.9%; central 95th percentile range, 1.7% to 24.7%). In 105 of 119 patients with iron deficiency, on the contrary, the percentage of hypochromic cells (mean, 34.6%; central 95th percentile range, 9.7% to 73.1%) was higher than the percentage of microcytes (mean, 12.8%; central 95th percentile range, 1.7% to 29.6%). The ratio between the percentage of microcytes and the percentage of hypochromic cells provided by the H*1 (microcytic-hypochromic ratio) was useful in differentiating the two types of microcytic anemia: with the use of a discriminant value of 0.9, the discriminant efficiency of the microcytic-hypochromic ratio was 92.4% (95% confidence interval, 88.8% to 95.2%), higher than that of the five previously described discriminant formulas and simple RBC measurements. When assessed on a test data set that comprised 149 unselected cases of microcytic anemia, a microcytic-hypochromic ratio lower than 0.9 demonstrated high sensitivity (94.0%), specificity (92.3%), and predictive value (94.0%) for the presence of iron-deficient erythropoiesis in patients with isolated iron deficiency, polycythemia vera treated by phlebotomy, and iron deficiency complicating heterozygous thalassemia. In conclusion, our results showed that iron-deficient erythropoiesis is characterized by the production of RBCs with a severely decreased HGB concentration, while microcytes of beta-thalassemia trait are generally smaller, with a more preserved HGB concentration. Such properties, as assessed by the H*1 hematology analyzer, are very useful in distinguishing these two common types of microcytic anemia.
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PMID:Automated measurement of red blood cell microcytosis and hypochromia in iron deficiency and beta-thalassemia trait. 173 38

In severe human beta-thalassemia, the pathophysiology relates to accumulation of excess alpha-globin chains at the membrane. One hypothesis is that membrane-associated alpha-globin by virtue of it's iron or hemichromes produces oxidation of adjacent membrane proteins. The availability of a mouse model of severe beta-thalassemia, as well as a transgenic (thalassemic-sickle) mouse that expresses 12% of human beta s-chain, has allowed us to study the effect of graded accumulation of alpha-chains at the red blood cell (RBC) membrane on the clinical status of the animal and on the material properties of its RBCs. Proteins from control, beta-thalassemic, and transgenic mouse RBC membranes were analyzed for evidence of oxidation, as measured by thiol-disulfide exchange chromatography, which detects intramolecular sulfhydryl oxidation. Ratios of oxidized globin to protein 7 were calculated and increased amounts were seen in thalassemic mice as compared with control mice and transgenic mice. Furthermore, there were increased amounts of thiol-free protein 4.1 in the thalassemic mice, compared with very small amounts in the control mice and intermediate amounts in the transgenic mice. Membrane mechanical stability as assessed by ektacytometry showed that the thalassemic mouse RBCs were markedly unstable. Transgenic mouse RBCs showed intermediate levels of membrane instability compared with the controls. We propose that this oxidized globin, in conjunction with oxidized protein 4.1, accounts (at least in part) for membrane instability. A 12% increase in beta s-globin chain synthesis (by decreasing excess globin available) confers considerable protection against both oxidative damage and the consequent membrane instability.
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PMID:Oxidative red blood cell membrane injury in the pathophysiology of severe mouse beta-thalassemia. 173 90

To elucidate the effects of iron on lipid peroxidation, three kinds of assays were done. (i) The effects of intravenous injection of single doses of iron dextran (100 mg iron) on lipid peroxidation in various tissues and the blood plasma of rats were examined by the thiobarbituric acid reaction. Malondialdehyde concentrations were significantly elevated in the spleen, heart, and plasma 3 h after injection, whereas significant increases were observed in the liver and adipose tissue at 24 and 48 h, respectively. In the liver and spleen, the elevated malondialdehyde concentrations persisted until Day 28. In contrast, levels were reduced in the heart and adipose tissue within 4 weeks after iron injection. Plasma malondialdehyde concentrations were 70-times that of controls at 24 h after iron injection. The level subsequently decreased sharply by Day 6. In red blood cells, lipid peroxidation was not affected by iron. Malondialdehyde levels were correlated with the iron contents of the liver, spleen, heart, adipose tissue, and plasma (r value range 0.39-0.88, p less than 0.05). Furthermore, there was a strong correlation in the liver and spleen at iron levels below 2,000 micrograms/g (r = 0.94, p less than 0.0001; r = 0.94, p less than 0.0001, respectively). (ii) In vitro experiments demonstrated that the addition of iron as ferric chloride, iron dextran, ferritin, and hemosiderin to normal liver homogenate accelerated malondialdehyde production. However, such increases were less than 10% of those caused by equivalent iron in the liver homogenate of iron treated rats. (iii) Compared to controls, spleens from eight thalassemia patients showed a high level of malondialdehyde and iron.
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PMID:Effects of iron on lipid peroxidation. 174 52

In beta thalassaemia patients the subcutaneous desferrioxamine chelation therapy is performed routinely. Rare indications are hypoplastic anaemia, congenital dyserythropoetic anaemia and Fanconi anaemia. We initiated the chelation agent in three patients with the above mentioned diagnoses. The beginning of treatment in hypoplastic anaemia depends upon the quantity of red cell transfusions, whereas in dysterythropoetic anaemia the increased intestinal iron absorption has to be taken into consideration. Aim of the therapy is a negative iron balance. The evaluation of the iron balance is relatively simple. The girl with hypoplastic anaemia has been treated for 1.5 years. Within this time she received 11,680 mg iron by blood transfusions. The urinary iron output was 7112 mg. Depending on the analyzing method, the mean fecal iron excretion amounts 36.5% or 61% of the global excretion. Laboratory findings and clinical course are in favour to the aimed negative iron balance in two patients.
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PMID:[Rare indications for iron chelation therapy with desferrioxamine]. 174 30

A patient with thalassemia minor (TM) is reported who ingested 80 g of alcohol/day and presented an important overload of iron with deposits and a hepatic iron ratio compatible with primary hemochromatosis. The results obtained from the study of histocompatibility antigens, clinical manifestations and family analysis discarded the possibility of two genetic diseases, beta-thalassemia and primary hemochromatosis, being concomitantly present in the same progeny. Thalassemia minor and alcoholic hepatopathy are considered as having acted together and being responsible for the iron overload. The relation between alcohol ingested, TM and iron deposits is discussed.
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PMID:[Thalassemia minor with iron overload: genetic and clinical study of a family]. 176 61

We assessed the iron load content in 36 beta-thalassemia patients by NMR correlating the results with serum ferritin levels. 22 of them were affected by beta-thalassemia major on hyper-transfusional regimen (Group A), 4 by beta-thalassemia intermedia (Group B) and 10 by beta-thalassemia major, who had been previously bone marrow transplanted (Group C). In A and C Groups the liver showed the lowest signal intensity on spin echo images (p less than 0.01; p less than 0.06, respectively). A significant correlation between the summation of signals obtained from all the examined organs and serum ferritin levels was observed by evaluating both all the patients globally (r = 0.78; p less than 0.001) and the A and C Group patients. This correlation was confirmed only in the liver both in all the patients (r = 0.77; p less than 0.001) and in A and C Group patients, when the signals obtained from each organ were evaluated.
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PMID:[Nuclear magnetic resonance and iron overload in thalassemia]. 179 2

Using data on optic and electron microscopy the authors give characteristics of lesions in the synovial membrane of the knee joints in 6 patients with an intermediary form of beta-thalassemia. Multiple reduplication of the basal membrane was noted in all the vessels, the width of the noncellular component of the vessels increased several times and its stratification was clearly seen. Deposits of iron oxide were revealed in biopsy samples of the synovial membrane of all the patients. Those deposits were in the form of microgranular intracellular inclusions in phagocytosing cells of the superficial stroma of villi but more often they were found in the cytoplasm of the vessel cells and pericytes.
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PMID:[The clinico-morphological characteristics of synovial membrane involvement in beta-thalassemia]. 181 59

Twenty-four patients with beta thalassaemia major, aged 8-22 years (mean 15.3 +/- 8.1) were given 1-2, dimethyl-3-hydroxypyrid-4-one (L1) orally for a period of three months. The drug was given in the dose of 25 mg/Kg/day for the first week and gradually increased to 100 mg/Kg/day which was continued until 3 months. The mean urinary iron excretion was 5.73 +/- 3.648 mg/day on 25 mg/Kg/day of L1; 15.2 +/- 11.225 mg/day on 50 mg/Kg/day; 24.2 +/- 12.69 mg/day on 75 mg/Kg/day and 36.3 +/- 19.4 mg/day on 100 mg/Kg/day of L1. Serum ferritin estimated by ELISA before and 3 months after L1 therapy in 21 patients showed significant drop in levels, the mean drop being 964.3 +/- 844.4 (P less than 0.001). The only side-effects noted were transient gastrointestinal symptoms in 5 patients and skeletomuscular pain in 3 patients. Both these groups of symptoms were of transient nature. The efficacy of L1 appears to be excellent and equivalent to the standard iron chelation therapy available at present i.e. desferrioxamine. It appears to be free of major toxicity. L1 is also a specific chelator for iron as it does not deplete trace metals. L1 appears to be a cheap and effective oral alternative to desferrioxamine for treating iron overloading.
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PMID:Efficacy and safety of 1-2, dimethyl-3-hydroxypyrid-4-one (L1) as an oral iron chelator in patients of beta thalassaemia major with iron overload. 181 96

Despite the frequency of gastrointestinal disease caused by Yersinia enterocolitica, intestinal perforation is a rare complication of this infection and to date only eight cases have been reported in the English literature. We describe a case of this unusual condition in a 17-year-old male patient with thalassemia intermedia requiring transfusion, who was also taking deferoxamine. The severity of the clinical picture is probably due to the increased virulence of Yersinia enterocolitica in the presence of deferoxamine and iron.
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PMID:Yersinia enterocolitica infection with ileal perforation associated with iron overload and deferoxamine therapy. 186 9

A total of 45 patients with beta-thalassemia and 30 patients with thalassemia intermedia underwent clinical and x-ray examinations. Electron microscopy was used to examine biopsy specimens of the synovial membrane from 6 patients with homozygous thalassemia intermedia. It has been revealed that damage to the osseous system and joints is of systemic nature and depends on the clinical form of the pathological process. Morphological methods have demonstrated abnormal metabolism of iron with its deposition in the tissues and impairment of the vessels of the microcirculatory bed.
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PMID:[Osteoarthropathy in beta-thalassemia]. 188 21


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