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)

We have determined serum Zn, Fe, Cu and Mg in 42 patients aging from 3 months to 22 years with homozygous beta-thalassemia and thalassemia intermedia and in 36 control subjects of the same ages. Serum zinc was significantly decreased. Serum copper and iron were increased, but magnesium was found to be at normal levels.
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PMID:Changes of trace minerals (serum iron, zinc, copper and magnesium) in thalassemia. 80 39

Microcytic red blood cells (RBC) occur in iron-deficiency anemia, lead poisoning, and the thalassemia syndromes. Micromeasurement of FEP by acid extraction from RBC was performed on RBC of 64 subjects with RBC mean corpuscular volume less than 78 fl as determined on a Coulter S. FEP was also determined on RBC from 25 nonanemic, normocytic subjects for comparison. The 25 nonanemic subjects, 29 subjects with alpha-thalassemia trait and 16 subjects with beta-thalassemia trait had FEP less than 107 mugm/100 ml RBC. Nineteen microcytic subjects with iron-deficiency anemia had FEP of 185--752 mugm/100 ml RBC. Hemolysates from 8 lead intoxication individuals had FEP values similar to those of iron-deficient patients. The fluorescence emission spectra of lysates with high FEP, which were not extracted, were similar in iron deficiency and lead poisoning. The porphyrin that accumulates in these two conditions appears to be zinc protoporphyrin. Micromeasurement of FEP can be used to initially classify microcytic anemias into either a disturbance of globin synthesis or a disturbance in heme synthesis. Iron-deficiency anemia and lead poisoning cause accumulation of identical prophyrin and cannot be distinguished by fluorometric analysis.
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PMID:Classification of microcytic anemia by fluorometric analysis of free erythrocyte porphyrins (FEP). 100 85

Regular bone survey radiographs have allowed identification of limb deformity and metaphyseal changes in several patients with thalassaemia major treated at the Adelaide Children's Hospital. Following the progression of limb deformity in five of these patients who were receiving human growth hormone therapy, the records of 25 thalassaemia patients were reviewed. Six patients had evidence of limb deformity, four of whom also had metaphyseal changes. Three additional patients had metaphyseal changes alone. Patients with either type of skeletal change shared similar characteristics, including younger age, earlier commencement of desferrioxamine therapy, better compliance and, in general, lower levels of ferritin. Females predominated in both groups. The frequency of sensorineural hearing loss was similar in affected and nonaffected groups and biochemical parameters, especially plasma calcium, phosphate, alkaline phosphatase, and zinc, which were normal in all patients. The cause of these skeletal changes is not clear; however, several potential factors need to be considered. Among these are focal marrow expansion in the metaphyseal region due to incomplete suppression of erythropoiesis and possible effects of desferrioxamine, including direct interference with bone growth, altered response of bone to inflammation or infection, and altered bone metabolism related to chelation of trace metals. While we can only speculate on aetiological factors, it is clear that human growth hormone therapy has resulted in exaggeration of deformity due to an increased rate of bone growth or decreased rate of mineralization of physeal cartilage. We believe that bone survey radiographs are useful in early identification of skeletal changes.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Limb deformity and metaphyseal abnormalities in thalassaemia major. 774 45

Zinc, copper, and magnesium concentrations in hair were measured in groups of children varying in one condition--protein-energy malnutrition, ricketts, thalassemia, malignancy, cardiac failure, or after prolonged infection and in healthy controls. As compared with controls, copper and magnesium concentrations were low in all groups, whereas higher values were obtained for hair zinc. These results showed that a generalized copper and magnesium deficiency were observed in the southeastern part of Turkey. However, zinc deficiency couldn't be detected as far as the hair zinc values were concerned, although all of the subjects fell within the 50 percentile limits for their age-appropriate weights and heights.
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PMID:Zinc, copper, and magnesium concentrations in hair of children from southeastern Turkey. 170 58

Beta-thalassemia/Hb E is a genetic disease prevalent in Thailand. This study has used atomic absorption spectroscopy to evaluate red cell and plasma calcium, copper and zinc in patients with beta-thalassemia/Hb E, both splenectomized and non-splenectomized. The levels of these trace elements in both red cells and plasma were different between the non-thalassemic controls and the disease patients. The most prominent result was that calcium concentration in red cells increased significantly in thalassemia subjects, particularly in splenectomized cases. These results might reflect the abnormal trace element metabolism and defects in the calcium transport system of the red cell membrane in thalassemia.
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PMID:Red cell and plasma calcium, copper and zinc in beta-thalassemia/hemoglobin E. 194 75

alpha-thalassaemia and beta-thalassaemia traits are two commonly encountered haemoglobinopathies in South East Asia. Both present with hypochromia and microcytosis. The use of modern electronic or optical cell counters which measure accurately the red cell parameters has allowed for an initial quick screening for the presence of thalassaemia. Seven red cell parameters were measured by the Technicon H1 cell analyser--red cell count, Hb, MCV, MCH, red cell distribution width (RDW) and haemoglobin distribution width (HDW). Discriminant analysis of these parameters and zinc protoprophyin (ZP) indicates that in healthy individuals, alpha-thalassaemia can be differentiated from beta-thalassaemia with an accuracy of 86% when analysed as a group. In hospitalized patients the accuracy dropped to 71% due to biases of concomitant illness. The two most important parameters for indicating differences between alpha- and beta-thalassaemia are MCV and ZP. The results confirm further that though alpha- and beta-thalassaemia have the same phenotypic expression they differ in their biology.
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PMID:Alpha-thalassaemia and beta-thalassaemia traits: biological difference based on red cell indices and zinc protoporphyrin. 220 47

A rapid and inexpensive method is described for the enrichment of fetal hemoglobin (HbF) which eliminates the interference of other hemoglobins in the HPLC analysis of gamma chains when HbF is less than or equal to 20-30% of the total Hb. The enrichment procedure, which is carried out on 1 ml hemolysate, is based on the alkaline denaturation of the other Hbs followed by Zn2+ precipitation. Samples are injected into the HPLC apparatus without further treatment. The method was validated by HPLC analysis of hemolysates with high levels of HbF and mixtures prepared by diluting the high HbF hemolysates with adult hemolysates. The relative proportions of gamma chains as well as their chromatographic behavior were unaltered by the HbF enrichment procedure. The method is illustrated by the analysis of hemolysates of normal newborns and of patients with thalassemia, sickle cell diseases and aplastic anemia containing 3.4 to 100% HbF. For the four hemolysates containing greater than 20% HbF, the same quantitative and chromatographic results were obtained by direct analysis and after enrichment. Although reproducible and accurate results were obtained for the enrichment method and HPLC analysis when HbF was greater than or equal to 3%, at lower concentrations the variability of both was unacceptably high, indicating the need for additional or improved methodology for hemolysates containing very low levels of HbF.
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PMID:An HbF enrichment procedure for the HPLC analysis of gamma chains. 240 92

Regular subcutaneous desferrioxamine therapy has prolonged the life and reduced the incidence of cardiac, endocrine and liver complications of iron overload in patients with thalassaemia major and other refractory transfusion-dependent anaemias. Its full impact will be apparent only when patients who began this treatment as children 10 years ago reach adult life. The major problems with s.c. DF therapy are its cost and the difficulty of patient compliance with a painful and cumbersome method of administration. Attempts to maintain normal iron stores in these patients has resulted in significant toxicity caused by the excessive use of DF. Although recent studies have shown that long-term subcutaneous calcium diethylene triamine penta-acetic acid (Ca-DTPA) can be used as an effective alternative to s.c. DF (Wonke et al, 1988), this treatment presents additional potential problems of zinc depletion which can be prevented only by careful management. The prospects of an inexpensive, orally active iron chelator are now real (Kontoghiorghes and Hoffbrand, 1988) and it is to be hoped that long-term results at least as good as those with s.c. DF will be achievable. Such oral chelators may be available to a far wider group of patients, than s.c. DF, and the problems of cost and compliance may be diminished.
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PMID:Results of long-term subcutaneous desferrioxamine therapy. 266 Sep 32

The role of trace metals in the generation of free radical mediated oxidative stress in normal human red cells was studied. Ascorbate and either soluble complexes of Cu(II) or Fe(III) provoked changes in red cell morphology, alteration in the polypeptide pattern of membrane proteins, and significant increases in methemoglobin. Neither ascorbate nor the metal complexes alone caused significant changes to the cells. The rate of methemoglobin formation was a function of ascorbate and metal concentrations, and the chemical nature of the chelate. Cu(II) was about 10-times more effective than Fe(III) in the formation of methemoglobin. Several metals were tested for their ability to compete with Cu(II) and Fe(III). Only zinc caused a significant inhibition of methemoglobin formation by Fe(III)-fructose. These observations suggest that site-specific as well as general free radical damage is induced by redox metals when the metals are either bound to membrane proteins or to macromolecules in the cytoplasm. The Cu(II) and Fe(III) function in two catalytic capacities: (1) oxidation of ascorbate by O2 to yield H2O2, and (2) generation of hydroxyl radicals from H2O2 in a Fenton reaction. These mechanisms are different from the known damage to red cells caused by the binding of Fe(III) or Cu(II) to the thiol groups of glucose-6-phosphate dehydrogenase. Our system may be a useful model for understanding the mechanisms for oxidative damage associated with thalassemia and other congenital hemolytic anemias.
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PMID:Oxidative damage to human red cells induced by copper and iron complexes in the presence of ascorbate. 280 91

Linear growth was evaluated in 32 patients with beta-thalassemia major. At the beginning of the study of 40.6% of the patients were below the 10th percentile with biochemical evidence of zinc deficiency. Effects of zinc supplementation on growth velocity (height) were assessed in a controlled manner. Twenty-one children received oral zinc sulphate for a period of 1 to 7 years (15 early- and 6 late-supplemented cases), while the remaining 11 thalassemics were maintained only on conventional transfusion therapy. The mean height velocity of early-zinc supplemented children was significantly greater than that of normal children (P less than 0.01). An increase in height was also observed in the patients who received delayed zinc retardation. The present study demonstrated that zinc deficiency is one of the factors responsible for retarded linear growth in beta-thalassemia major. Only the patients who received zinc supplementation showed an acceleration of growth in height. Administration of zinc could, therefore, be considered as an effective adjuvant therapy in homozygous beta-thalassemia.
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PMID:Effects of zinc supplementation on linear growth in beta-thalassemia (a new approach). 381 66


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