We have detected, for the first time in Spain, a beta degrees thalassemia caused by the mutation IVS II-1 (G-->A). This mutation, relatively frequent in Mediterranean countries, is very rare in the Iberian peninsula. This finding besides its epidemiological relevance, increases knowledge of the spectrum of Spanish mutations of beta thalassemia.
Thalassemic trait caused by IVS II-1 (GAEA) mutation detected in a Spanish family
ROSATELLI, MARIA CRISTINA;
2000-01-01
Abstract
We have detected, for the first time in Spain, a beta degrees thalassemia caused by the mutation IVS II-1 (G-->A). This mutation, relatively frequent in Mediterranean countries, is very rare in the Iberian peninsula. This finding besides its epidemiological relevance, increases knowledge of the spectrum of Spanish mutations of beta thalassemia.
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