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 applications of isoelectric focusing in immobilized pH gradients in clinical chemistry and forensic analysis are reviewed. Strong emphasis is given to the separation of serum proteins, in particular alpha 1-acidic glycoprotein, acid phosphatase, alkaline phosphatase, alpha 1-antitrypsin, apolipoproteins, complement component, factor B, factor XIIIB, group-specific component, lecithin:cholesterol acyltransferase, phosphoglucomutase, prealbumin, protein C and transferrin. The analysis of human parotid salivary proteins is discussed and an assessment is given of the state of the art in thalassaemia screening.
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PMID:Isoelectric focusing in immobilized pH gradients: applications in clinical chemistry and forensic analysis. 193 87

Despite genetic differences, patients with S-beta zero thalassemia or sickle cell anemia present several clinical and hematological similarities. In this study we present evidence that they can also show similar immunological profiles. Both hemoglobinopathies exhibited increased total lymphocyte counts as well as B, CD4 and CD8 lymphocyte subset counts. The CD4/CD8 ratio and the determination of the activity of antibody-dependent cellular cytotoxicity were within the normal range for patients with both diseases. The levels of IgG and IgA were also increased for both conditions, but the amount of factor B of the complement system was elevated only in sickle cell anemia patients.
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PMID:Immunological studies in sickle cell-beta zero thalassemia. Comparison with sickle cell anemia. 262 34

A serum fraction from patients with sickle cell-beta zero thalassemia prepared by treatment with polyethyleneglycol showed increased amounts of C1q-precipitable immune complexes, i.e., 216 micrograms/dl (range, 141-266 micrograms/dl) vs 181 micrograms/dl (range, 152-228 micrograms/dl) for controls (P less than 0.05), as well as increased amounts of protein. Levels of IgG, IgA, IgM, C3, C4 and factor B in the same fraction were within the normal range.
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PMID:Circulating immune complexes in sickle cell-beta zero thalassemia. 263 96

Patients with thalassemia major suffer frequent and serious infections, especially after splenectomy. To explore the basis for this susceptibility, we examined activity of the complement system in sera from 24 patients. All sera had normal or increased activity of the classic complement pathway. However, six of the 24 (three with and three without splenectomy) had abnormal alternative pathway function, and mean alternative pathway activity was significantly decreased in both splenectomized and nonsplenectomized patients. Mean concentrations of C3, factor B, properdin, and immunoglobulins were normal. Defective alternative pathway function, especially in conjunction with asplenia, could contribute to the propensity to infection that exists in thalassemia.
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PMID:Deficient activity of the alternative pathway of complement in beta thalassemia major. 690 98

Serum immunoglobulins, complements C3 and C4 and factor B were assayed in the sera of children with B-thalassaemia major, siblings and matched controls in an attempt to resolve the controversy surrounding the conflicting results reported in the literature. Significantly elevated IgG and decreased C3 and factor B levels were observed in thalassaemic patients who also had a high incidence of HBS hepatitis and other infections. The controversial results probably reflect differences in the incidence of infection, and the presence of circulating immune complexes due to blood transfusions, in the various communities. The alterations in immunoglobulin and complement levels represent a secondary rather than a primary immune disorder.
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PMID:Elevated IgG and decreased complement component C3 and factor B in B-thalassaemia major. 691 68