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)

The applicability to red blood cells of two widely used methods for spectrophotometric assay of superoxide dismutase activity has been tested, in view of the demand for routine screening of the level of this enzyme in various circumstances of hematological interest. The nitro blue tetrazolium reduction method was found to be inapplicable, even after removal of hemoglobin by chloroform-ethanol extraction. On the other hand, the epinephrine oxidation method gave reliable values after chloroform-ethanol extraction. The enzyme content in normal adults was found to be 6.2 +/- 1.4 X 10(15) gr. per red blood cell. No significant change in the enzyme content was found in 19 patients with beta-thalassemia major and 5 patients with beta-thalassemia intermedia, indicating no influence on the level of this enzyme by the increased flux of oxygen radicals which is to be expected in thalassemic red blood cells.
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PMID:Superoxide dismutase in red blood cells: method of assay and enzyme content in normal subjects and in patients with beta-thalassemia (major and intermedia). 93 20

Presently genetic analyses for thalassemia types require relatively large amounts of heparinized blood (5 to 10 ml), and transport as well as degeneration of these sample is a problem in the developing world. We have developed a new method to simplify this procedure and obtain DNAs from small specimens. As experimental materials, thinly smeared blood on a glass slide or blood filtered with and adhered on polysthylene telephtalate (PST) fibers were used. These materials could be safely stored without interfering with DNA extraction for up to 3 months. The slide materials were digested with proteinase K, and DNA was extracted with Tris-EDTA-phenol:chloroform and precipitated with absolute ethanol. The PST specimens were washed with physiologic saline and treated in the same manner as described above. Products were easily amplified by PCR and digested with restriction endonucleases for beta thalassemia typing as well as for HLA-DQA1 gene typing. Results obtained by this method correlated well with previously reported incidences for thalassemia and HLA-DQA1 types in Thailand. This method can be used in the routine laboratory because it allows for stable and biosafe genetic analyses.
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PMID:Detection of thalassemia genes using smeared blood film or leukocytes adhering to polysthylene fibers. 964 Jun 14