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)

This study was designed to identify the beta-thalassemia mutations in an Argentine population. Seventy-one pediatric patients and 101 available relatives were studied (85 chromosomes). Diagnosis of beta-thalassemia was made by conventional hematological procedures. Molecular studies were carried out by dot-blot and restriction endonuclease analysis on amplified DNA to detect the eight most frequent mutations in the Mediterranean area. We were able to identify 95.3% of the beta-thalassemia mutations in the subjects under study. The four common defects (C-39, 47%; IVS-I nt 110, 22.4%; IVS-I nt 1, 9.4%; and IVS-I nt 6, 5.9%) account for 84.7% of the beta-thalassemia alleles. The alleles and their distributions showed a close similarity to the spectrum of alleles in Italy. The differences might represent the influence of other immigrations, especially from Spain. We conclude that beta-thalassemia in Argentina originated mainly from Italian immigrants. This study will enable us to design an adequate approach to genetic counseling and/or prenatal diagnosis for couples at risk.
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PMID:Molecular characterization of beta-thalassemia genes in an Argentine population. 906 94