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

The study of 176 subjects with beta-thalassemia, associated or not with a hemoglobinopathy, shows great diversity. The hemoglobin C thalassemias are less severe and form a fairly homogeneous group. Sickle cell thalassemia cases have more marked anemia and the disease takes on more varied forms, no doubt because the main mechanism of the anemia, the hyperhemolysis, is influenced by several factors which have a variable effect on the clinical picture. Unassociated thalassemias seem the most polymorphic. Although it seems that in certain foci the beta-thalassemias are fairly stereotyped, this first study shows in Algeria great heterogeneity. All forms are observed both clinically and in the laboratory. Present classifications have not supplied a sufficiently operative model. It is not doubt necessary to await further progress in the laboratory to classify these diseases more precisely.
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PMID:[Clinical and biological aspects of beta-thalassemia. Apropos of 176 cases]. 19 8

The bone marrow macrophages of patients with homozygous beta-thalassaemia were frequently situated adjacent to collagen fibres and sometimes formed intrasinusoidal cytoplasmic protrusions. They also appeared to phagocytose processes of erythroblast cytoplasm (at times containing precipitated alpha-chains) which projected into them from neighbouring erythroblasts. The cytoplasm of the macrophages included large numbers of heavily-iron-loaded secondary lysosomes of various sizes and shapes in addition to phagocytosed erythroblasts, erythrocytes and extruded erythroblast nuclei. Numerous ferritin molecules were found in the cytoplasmic matrix but there were hardly any in the mitochondria, endoplasmic reticulum or golgi saccules. A small number of ferritin molecules were present within the nucleus. Electron microscope autoradiographs of marrow fragments which had been incubated with [3H]leucine for 1 h revealed the presence of newly-synthesized protein molecules in all types of secondary lysosomes. Light microscope autoradiographs showed the [3H]thymidine labelling index of the bone marrow macrophages was less than 1% and suggested that only a very small proportion of these cells were actively preparing for division.
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PMID:Some features of bone marrow macrophages in patients with homozygous beta-thalassaemia. 20 37

Growth rate, skeletal maturation and thyroid function were measured in fifty thalassaemic children (age 2-13 years) and in fifty controls (matched for sex and age who were not anaemic. Growth retardation was present in several patients during the first years of life and affected almost all subjects examined when they were approaching puberty. Discrepancy between bone and height age in patients was not significantly different from controls. The finding of low T4 and T3 with a high TSH indicated thyroid hypofunction. This finding, already present early in life, did not worsen with increasing age. In beta-thalassaemia hypothyroidism cannot be the cause of retarded growth since there is no relationship between the impairment in thyroid function and severity of growth retardation. In addition, height age was not different from bone age, while a discrepancy is a constant feature of low stature due to hypothyroidism.
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PMID:Growth retardation, skeletal maturation and thyroid function in children with homozygous beta-thalassaemia. 20 91

The effect of H2O2 on ferrous human haemoglobin subunits (alphash-, betash-, alphapmb- and betapmb-chains) was studied. These chains were easily transformed to haemichrome by the addition of H2O2 or H2O2-generating systems, including glucose oxidase (EC 1.1.3.4) AND XANTHINE OXIDASE (EC 1.2.3.2), and this was ascertained by e.p.r. measurements and by absorption spectra. The changes in these haemoglobin subunits were not inhibited by superoxide dismutase (EC 1.15.1.1), but were decreased by catalase (EC 1.11.1.6). The rate of oxidation of alphapmb-chains was higher than that of alphash-chains, and the rate of oxidation of betapmb-chains was higher than that of betash-chains. Haemichrome was demonstrated to be formed directly from these ferrous chains by the attack by H2O2, and this process did not involve formation of methaemoglobin. On the basis of these findings the kinetics of the reaction between the haemoglobin subunits and H2O2 was studied, and the pathological significance of H2O2 in disorders of erythrocytes such as thalassaemia was discussed.
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PMID:Haemichrome formation from haemoglobin subunits by hydrogen peroxide. 20 62

The analysis of cord blood samples of 198 African newborns and their mothers confirmed the high prevalence of iron deficiency. A hypochromia and microcytosis of red cells was found in 40% of the pregnant women at term. In the majority of newborns the haemoglobin concentration was below 16 g/100 ml. Hb S was found in 11%, Hb C in 9% and alpha-thalassaemia in 2% of the population examined. Haemoglobin, packed cell volume and mean cell volume of erythrocytes were lower than results of newborns from developed countries. Foetal sex had no influence on haematological variables.
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PMID:Haematological data of African newborns and their mothers in Abidjan. 21 78

Using both starch gel and cellulose-acetate electrophoresis is screening procedures, haemoglobin (Hb) Barts was detected in 11.08% of 325 cord blood samples from newborn Tanzanians. Red cell studies in these and in normals and a search for inclusion bodies of Hb H did not suggest alpha-thalassaemia. The mothers of these babies do not show any evidence of alpha-thalassaemia. It is suggested that the presence of Hb Barts in samples of cord blood is not due to the presence of alpha-thalassaemia in the Tanzanian population.
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PMID:Haemoglobin Barts in newborn Tanzanians. 21 17

In this paper are brought the results obtained in two Parisian hospitals during a survey of abnormal hemoglobins in 540 immigrant workers coming from Africa, mostly from Mali, Mauritania and Senegal. All the subjects investigated were male and between 20 and 40 years old. The studies were performed following internationally standardized technics. The most frequent abnormalities were: Hb S found in 16.3%, Hb C (6.6%), alpha-thalassemia trait (3.1%) and beta-thalassemia trait (3.1%). Some rare abnormalities were also found: delta-chain variants, hereditary persistance of foetal hemoglobin, Hb Hope and Hb Grady. This work emphasizes the high frequency of the different hemoglobin disorders in this population. The easy diagnostic of electrophoretically detectable variants is compared to the more complex situation of thalassemia leading probably to an under estimation of the percentage.
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PMID:[Hemoglobinopathies in West-African immigrant workers in France (author's transl)]. 21 87

Although the exact mechanism of positive inotropic action of cardiac glycosides is unknown, specific membrane bound proteins with high affinity for this group of drugs have been characterized. These "receptors" for cardiac glycosides have been measured quantitatively in cardiac tissue of humans and several species as well as in other tissues. The occupation of receptors by cardioactive steroids has been found to agree quantitatively with the drug effects in respect to inhibition of (Na+ + K+)-ATPase and in respect to positive inotropy (these experiments were performed in electrically stimulated contracting cardiac muscle). Changes in receptor concentration or receptor properties have been observed in hyperthyroidism, chronic hypokalaemia, thalassaemia or in acutely changed serum concentrations of K+, Ca++ and several drugs. These changes may be of great significance in patients treated with cardiac glycosides as their effects are not reflected by the serum concentration of cardiac glycosides. The understanding of drug-receptor-interactions on the molecular level--especially under the pathological conditions in the patient--will increase our diagnostic and therapeutic knowledge.
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PMID:[Quantitative aspects of specific binding of cardiac glycosides to membrane receptors]. 22 57

Peculiar storage cells appearing in bone marrow aspirates from a patient with juvenile GM1-gangliosidosis and from one with beta-thalassemia were examined light microscopically, histochemically and electron microscopically. Light microscopically, most of the storage cells closely resembled Gaucher cells pathognomonic for Gaucher's disease. The cytoplasm of the Gaucher-like cells contained numerous variable-shaped membrane-bound inclusions mostly arranged in a mosaic pattern and filled with fibrillar materials. Intermingled tubular structures were usually narrow as compared to those of the Gaucher cells. These ultrastructural differences of the stored materials between the Gaucher-like cells and Gaucher cells were more clearly substantiated by the high resolution electron microscopy with negative staining technique. Enzyme cytochemically, acid phosphatase activity was proved in or around the storage inclusions, suggesting their lysosomal origin. Histochemically, it might be suggested that the stored materials of the Gaucher-like cells in juvenile GMI-gangliosidosis were non-sulfated acid mucopolysaccharides and glycopeptides, whereas glycoproteins were the major component of the storage cells in beta-thalassemia. Possible mechanisms of storage in the Gaucher-like cells were discussed in both disorders.
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PMID:Gaucher-like cells in juvenile GM1-gangliosidosis and in beta-thalassemia -- A histochemical and ultrastructural observation. 23 88

The structure, synthesis, genetic transmission, clinical associations and distribution of the elongated alpha-chain haemoglobin variants has been described. The data indicate that the most likely molecular basis for these common abnormal haemoglobins is a single base substitution in the alpha-chain termination codon. Because these variants are produced inefficiently they give rise to the clinical picture of alpha-thalassaemia. When these findings are taken together with recent work regarding the molecular basis for other forms of alpha-thalassaemia it is possible to build up a fairly complete picture of the molecular pathology of the alpha-thalassaemias.
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PMID:The alpha-chain-termination mutants and their relation to the alpha-thalassaemias. 24 Jan 78


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