Tamagnini G P, Gonçalves P, Ribeiro M L, Kaeda J, Kutlar F, Baysal E, Huisman T H
Department of Hematology, Centro Hospitala de Coimbra, Portugal.
Hemoglobin. 1993 Feb;17(1):31-40. doi: 10.3109/03630269308998883.
We report the characterization of seven different beta-thalassemia mutations in 131 newly diagnosed Portuguese beta-thalassemia heterozygotes. Methodology included the detection of abnormal fragments by agar gel electrophoresis of PCR-amplified DNA fragments after digestion with specific restriction endonucleases, as well as hybridization with synthetic nucleotide probes and sequencing of amplified DNA. Four mutations, including the newly discovered TGG-->TGA change at codon 15, occurred in excess of 10% and accounted for some 90% of the beta-thalassemia alleles in this population. The geographical distribution is uneven; the TGG-->TGA mutation at codon 15 was primarily observed in the coastal region north of Lisbon, while the IVS-I-6 (T-->C) mutation was confined to the central part of the country.
