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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Due mainly to a deeply disturbed iron metabolism, intense production of oxygen-derived free radicals occurs in genetic hemoglobinopathies such as homozygous sickle-cell anemia and beta-thalassemia. Together with impairments in the natural factors involved in oxy-radical detoxication, this results in intense oxidative stress leading to lipid peroxidation in the blood components. In search of peroxidation effects, we undertook a gas chromatographic study of both the total and phospholipid-bound fatty acids in the serum from sickle-cell disease and beta-thalassemia patients. Specific alterations of pathologic origin have been evidenced in the profiles of total and phospholipidic fatty acids, as well as in the elongation-desaturation ratios of the total fatty acids. Results are consistent with lipid peroxidations and fatty-acid biosynthesis disturbances in both diseases, but more severe in thalassemia than in sickle-cell anemia. Increased serum selenium in the latter disease might exert a protective action against lipid peroxidation.
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PMID:Fatty-acid peroxidation in relation to trace elements in serum of patients with homozygous sickle-cell anemia and beta-thalassemia: a gas-chromatographic study. 874 19

One of the hallmarks of both sickle cell disease (SCD) and thalassemia major (TM) is accelerated oxidative damage. Decreased antioxidant levels and increased oxidant stress biomarkers are found in both diseases. Although isolated vitamin deficiencies have been reported in TM and nontransfused SCD patients, a comprehensive evaluation of vitamin and trace mineral levels has never been performed in chronically transfused SCD or TM patients. As vitamins and trace minerals may be consumed as a result of chronic oxidative stress; we hypothesized that levels of these compounds would correlate with surrogates of iron overload, hemolysis, and inflammation in chronically transfused patients. Using a convenience sample of our group of chronically transfused patients we studied 43 patients with SCD (17 male, 26 female) and 24 patients with TM (13 male and 11 female). The age range for our patients varied from 1.5 to 31.4 years. Levels of vitamins A, thiamin, B6, B12, C, D, E as well as selenium, zinc, copper, and ceruloplasmin were measured. We found that 40-75% of the patients were deficient in A, C, D and selenium and 28-38% of the patients had low levels of B vitamins and folate. There was little association with iron overload, hemolysis, or inflammation. Although the precise mechanism of these deficiencies is unclear, they may contribute to the morbidity of chronically transfused hemoglobinopathy patients.
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PMID:Nutritional deficiencies in iron overloaded patients with hemoglobinopathies. 1941 22

Sickle cell disease (SCD) is a genetic hemoglobinopathy characterized by chronic hemolysis. Chronic hemolysis is promoted by increased oxidative stress. Our hypothesis was that some antioxidant micronutrients (retinol, tocopherol, selenium, and zinc) would be determinant factors of the degree of hemolysis in SCD patients. We aimed to investigate the nutritional adequacy of these antioxidants and their relationships to hemolysis. The study included 51 adult SCD patients regularly assisted in two reference centers for hematology in the State of Rio de Janeiro, Brazil. Serum concentrations of retinol, alpha-tocopherol, selenium, and zinc were determined by high-performance liquid chromatography or atomic absorption spectrometry. Hematological parameters (complete blood count, reticulocyte count, hemoglobin, direct and indirect bilirubin, total bilirubin, lactate dehydrogenase) and inflammation markers (leukocytes and ultra-sensitive C-reactive protein) were analyzed. A linear regression model was used to test the associations between the variables. Most patients presented selenium deficiency and low selenium consumption. Linear regression analysis showed that selenium is the main determinant of hemolysis among the antioxidant nutrients analyzed. Thus, data from this study suggest that the nutritional care protocols for patients with SCD should include dietary sources of selenium in order to reduce the risk of hemolysis.
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PMID:Selenium Status and Hemolysis in Sickle Cell Disease Patients. 3154 Feb 39