HEMATOLOGICAL PHENOTYPE AND THE TYPE OF BETA-THALASSEMIA MUTATION IN BRAZIL

The type of beta thalassemia mutation found in heterozygous individual s is believed to influence hematological symptoms. Our data demonstrat ed that patients with the mild mutation (beta IVSI-nt 6) have a higher mean corpuscular hemoglobin (MCH) than those with the severe forms (b eta(0)039 or beta IVSI-nt 1), and the hemoglobin A(2) levels were lowe r in beta(0) mutations than in the beta IVSI-nt 6 mutation. However, i n contrast to previous studies, we were not able to indicate MCH as a clear discriminator between the beta(0) and beta(+) mutations.