Balearic archipelago: three islands, three beta-thalassemia population patterns

Lopez-Escribano H, Parera MM, Guix P, Serra JM, Gutierrez A, Balsells D, Oliva-Berini E, Castro JA, Ramon MM, Picornell A. Balearic archipelago: three islands, three beta-thalassemia population patterns. The mutation spectrum of 175 beta-thalassemia (beta-thal) carriers, identified in pilot carrier screening on 22,713 individuals from Balearic Islands (Spain), is reported. The beta 0 CD39 (C>T) mutation is the most frequent (61.1%), followed by beta+ IVS-I-110 (G>A) (12.0%), beta+ IVS-I-6 (T>C) and beta 0 IVS-1-1 (G>A) (3.4% both) and eight other rare mutations (2.90.6%); with a distinct prevalence and distribution between islands. Minorca shows the highest prevalence in Iberian populations, with a single mutation, CD39 (C>T), present in most beta-thal carriers. Ibiza is the only Western Mediterranean population where the most frequent beta-thal mutation is IVS-I-110 (G>A). These results can be explained by a combination of historicaldemographic characteristics together with evolutionary forces such as founder effect, genetic drift and probably selection by malaria. Knowledge of the mutational spectrum in the Balearic Islands will enable to optimize mutation detection strategy for genetic diagnosis of beta-thal in these islands.