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)

Patients with beta-globin disorders show amelioration of clinical condition by sustained synthesis of fetal haemoglobin in adult life. We report data on a patient with beta(o)-thalassaemia genotype and thalassaemia intermedia clinical phenotype. He received therapy with hydroxyurea (20 mg/kg/d) because of the presence of extramedullary masses causing paraparesis, neurogenic bladder and impotence. During therapy, the patient showed an improved clinical picture and a significant increase in total Hb (from 71.8 to 103.2 g/L) and a gamma/alpha globin synthetic ratio (from 0.39 to 0.68). The myelosuppressive effect of hydroxyurea was revealed by a decrease in CFU-GEMM, BFU-E, and CFU-GM. Therefore hydroxyurea can be effective in the treatment of patients with extramedullary haematopoiesis (EMH) who are not transfusion-dependent and cannot be treated with radiotherapy.
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PMID:Hydroxyurea therapy in paraparesis and cauda equina syndrome due to extramedullary haematopoiesis in thalassaemia: improvement of clinical and haematological parameters. 1090 97