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)

Augmentation of gamma-gene synthesis by using recombinant human erythropoietin (r-Hu-EPO) represents a new approach to the therapy of beta-thalassemia. A prospective study was conducted in 26 transfusion-dependent beta-thalassemia major patients. r-Hu-EPO (Eprex/Cilag, Switzerland) was given to the patients at an initial dose of 500 IU/kg s.c. 3 times a week for at least 2 months during which no transfusion was applied. A sustained hemoglobin (Hb) level greater than 8 g/dl was considered as a response to EPO treatment. In the patients whose Hb levels remained under 8 g/dl or did not increase in comparison to pretreatment levels within 4 weeks, the dose of r-Hu-EPO was increased to 1,000 IU/kg 3 times a week and applied for another 4 weeks. Only 16 cases also received oral iron supplementation. The whole blood and reticulocyte counts, the biochemical tests including BUN, creatinine, AST, ALT, alkaline phosphatase and ferritin were done and the percentages of HbF and F cells were analyzed regularly. At the end of the 2nd month, 6 cases qualified to continue with the trial. At the end of the 6th month, r-Hu-EPO therapy was ceased in 3 cases of the 6 since their Hb levels had decreased below 7 g/dl. Only 3 cases (11.5%) continued with the r-Hu-EPO therapy without transfusion for up to 12 months. In conclusion, r-Hu-EPO may be useful in some selected transfusion-dependent patients with beta-thalassemia major. Selection criteria should include a mild beta-genotype of coinheritance of alpha-thalassemia, splenectomy and pretreatment reticulocyte response of the patients as well as the patients' compliance.
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PMID:Recombinant erythropoietin trial in children with transfusion-dependent homozygous beta-thalassemia. 940 97

We report on a 28-year-old patient with transfusion-dependent beta-thalassemia major, who was treated effectively with recombinant human erythropoietin (rHuEpo). rHuEpo promotes the differentiation and proliferation of erythroid cells, induces the production of fetal hemoglobin (HbF), and could be useful in the treatment of some selected transfusion-dependent thalassemia patients. Prior to rHuEpo treatment, the patient was on a regular blood transfusion regimen. Splenectomy did not decrease the transfusion requirements. Additionally, red cell alloimmunization had developed; therefore, we decided to start rHuEpo treatment (Eprex, Jansen Cilag, Greece) in an attempt to improve his anemia and the quality of life. Our patient responded well to rHuEpo treatment and was able to extend the intervals between transfusions from 10-14 to 55-65 days and to sustain a pretransfusion hemoglobin level above 7 g/dl. HbF levels were slightly increased from 55% to 60-65%. Indicators of vascular endothelial activation [serum endothelin-3, intracellular adhesion molecule-1 (ICAM-1), vascular cell adhesion molecule-1 (VCAM-1), and E-selectin] were decreased during treatment. rHuEpo was well tolerated without complications. rHuEpo treatment seemed to have had a beneficial effect and to have improved the quality of life in beta-thalassemia major, although it did have a slight effect on HbF levels, suggesting other possible mechanisms of rHuEpo action.
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PMID:Recombinant human erythropoietin therapy in a transfusion-dependent beta-thalassemia major patient. 1156 99