Purpose: To check out the incidence of beta-thalassaemia in different regions of Spain and to demonstrate its heterogeneity.
Patients and methods: The study was performed on 60 peripheral blood samples from patients diagnosed of beta-thalassaemia by conventional methods, namely, microcytosis, HbA2 over 3.5%, increased HbF. DNA was isolated with phenol-chloroform and amplified by ARMS technique, and in one case its sequence was established according to Sanger's method.
Results: The mutations found in the 67 alleles studied showed similar incidence, although NT1 (IVS 1) mutation was increased and NT110 (IVS 1) mutation was decreased when compared with the findings in other Mediterranean populations.
Conclusion: Due to historical reasons, the racial characteristics of Spanish people are the product of different ethnic groups, so hereditary disorders are here usually heterogeneous. This study appears to confirm such fact with respect to beta-thalassaemia.