BETA-THALASSEMIA IN SOUTH-WESTERN SPAIN - HIGH-FREQUENCY OF G-]A (IVSI-1) MUTATION

Huelva province is situated in southwestern Spain; its historic and ge ographic characteristics contribute to the existence of erythrocyte ge netic anomalies, such as beta thalassaemia. We have carried out a pren atal study of microcytosis, with a preliminary beta-gene analysis. Our findings show a beta-thalassaemia trait prevalence of 0.81%. In the m olecular research there was a high frequency of G --> A (IVS I-1) inju ry: 55%. By comparing the rates of this mutation in neighbouring Cacer es province in western Spain (47%) and Algarve in south Portugal (32%) , it demonstrates that this beta-gene defect has a high frequency in t he southwest of the Iberian Peninsula.