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Hematological phenotype and the type of b thalassemia mutation in Brazil
C.S. BertuzzoI; M.F. SonatiII; F.F. CostaIII
IDepartamento de Genética Médica, Faculdade de Ciências Médicas (FCM), Universidade Estadual de Campinas (UNICAMP), 13081-970 Campinas, SP, Brasil. Send correspondence to C.S.B.
IIDepartamento de Patologia Clínica, FCM, UNICAMP, Campinas, SP, Brasil.
IIIDepartamento de Clínica Médica, FCM, UNICAMP, Campinas, SP, Brasil.
ABSTRACT
The type of b thalassemia mutation found in heterozygous individuals is believed to influence hematological symptoms. Our data demonstrated that patients with the mild mutation (b IVSI-nt 6) have a higher mean corpuscular hemoglobin (MCH) than those with the severe forms (b°39 or b IVSI-nt 1), and the hemoglobin A2 levels were lower in b° mutations than in the b IVSI-nt 6 mutation. However, in contrast to previous studies, we were not able to indicate MCH as a clear discriminator between the b° and b+ mutations.
Keywords: Hematological phenotype; b thalassemia.
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