Molecular spectrum of beta-thalassemia in the Iranian province of hormozgan

Prevention of beta -thalassemia implies knowledge of the molecular spectrum occurring in the population at risk. This knowledge is necessary, especial ly when a prevention protocol is applied to a multiethnic population. For t his purpose, we have recently analyzed a large population of Iranian patien ts living in the Province of Hormozgan in Iran, and a small group of Irania n patients living in The Netherlands. We have found a different mutation sp ectrum in both populations as compared to the data obtained by other author s for the Iranian regions of Tehran, Fars, Sistan Balouchestan, Bushehr, an d Khouzestan. The IVS-I-5 (G -->C) is the most frequent mutant in the provi nce of Hormozgan (69%), followed by the IVS-II-1 (G -->A) (9.6%), while the IVS-I-1 (G -->A) was the most frequent defect found in the Iranian populat ion sample in The Netherlands. The IVS-II-745 (C -->G) mutation in cis with the 5 ' UTR (untranslated region) +20 (C -->T) transition was observed in two unrelated, transfusion-dependent homozygotes, living in the Hormozgan P rovince where, in contrast with populations living in other provinces of Ir an, no IVS-I-110 (G -->A) or IVS-I-1 (G -->A) mutations were found. We repo rt the molecular spectra of our population samples and compare them with th e mutation spectra observed in the Iranian populations by other authors. We discuss the severe phenotype of the patients homozygous for the IVS-II-745 (C -->G) mutation, linked in cis to the 5 ' UTR $20 (C -->T) transition. M olecular analysis using commercial kits is briefly compared with denaturing gradient gel electrophoresis, emphasizing the value of a. rapid method of detection for molecular defects in areas where many mutations occur.