[Differential diagnosis of hereditary hemochromatosis in children].
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Biomedical subjects
Publications and source records attributed to D A Settarova.
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The data of HLA-haplotyping were used as an allele marker controlling hereditary hemochromatosis in 23 patients with beta-thalassemia. The results obtained have permitted a conclusion that hemosiderosis in patients with beta-thalassemia may be caused by association of beta-thalassemia gene with hereditary hemochromatosis. Early diagnosis of hyperferremia is of great prognostic importance as the adequate treatment timely conducted can prevent the development of irreversible changes in the patients.
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Parameters of nonspecific defence--complement protein function, circulating immune complex level, neutrophil phagocytic activity, completeness of the phagocytic reaction, C3c level, were evaluated in 162 carriers of hemochromatosis gene (114 homozygotes and 48 heterozygotes with respect to hereditary hemochromatosis) aged from 7 to 64 years. The analysis of the results obtained has permitted a conclusion that the suppression of the complement system function, according to the classic or alternative type, is associated with the disease pathogenesis--hyperferremia, and is caused by the damage of the immunocompetent organs and cells synthesizing individual proteins of the complement, as well as by infectious complications leading to hypocomplementemia with respect to separate components.
As many as 11 patients suffering from hereditary hemochromatosis were examined on the bones and joints with the aid of X-rays. The given disease entity was marked by very suggestive x-ray sings of changes in the cranium, in the large and small joints, as well as in the long tubular bones, and so forth.
A significant decrease of work fitness was revealed in 23 patients with verified diagnosis of hereditary hemochromatosis exposed to graded physical exercise. It is assumed that the decrease of exercise tolerance in these patients may be most possibly accounted for by the lowering of myocardial contractility as a result of its injury due to iron overload. It is not excluded, however, that nonspecific dystrophic processes determined by diabetes mellitus, liver damage and coronary atherosclerosis in some cases may develop.
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The authors followed-up 76 patients with hereditary hemochromatosis whose diagnosis was confirmed by morphological signs of liver, pancreatic, pulmonary, gastric, and myocardial changes. The most informative laboratory indices of iron metabolism were defined (transferrin saturation with iron and the level of ferritin in the serum and erythrocytes). HLA typing of probands and their relatives was recommended to specify the hereditary nature of disease.
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