Universidade de Campinas. Faculdade de Ciências Médicas. Hemocentro and Departamento de Clínica Médica. São Paulo, SP, Brasil.Universidade de Campinas. Faculdade de Ciências Médicas. Hemocentro and Departamento de Clínica Médica. São Paulo, SP, Brasil.Universidade de Campinas. Faculdade de Ciências Médicas. Hemocentro and Departamento de Clínica Médica. São Paulo, SP, Brasil.Ministério da Saúde. Fundação Nacional de Saúde. Instituto Evandro Chagas. Belém, PA, Brasil.Ministério da Saúde. Fundação Nacional de Saúde. Instituto Evandro Chagas. Belém, PA, Brasil.Universidade de Campinas. Faculdade de Ciências Médicas. Hemocentro and Departamento de Clínica Médica. São Paulo, SP, Brasil.Universidade de Campinas. Faculdade de Ciências Médicas. Hemocentro and Departamento de Clínica Médica. São Paulo, SP, Brasil.Universidade de Campinas. Faculdade de Ciências Médicas. Hemocentro and Departamento de Clínica Médica. São Paulo, SP, Brasil.We analyzed the frequency of the C282Y and H63D mutations in the HFE gene in 227 individuals from Brazil
comprising 71 Caucasians, 91 racially mixed Caucasian African-derived Amerindians (both populations from Southeast
Brazil), 85 African-derived subjects (from Northeast Brazil) and 75 Parakanã Indians. Allelic frequency of the mutation C.
845G6A (C282Y) was 1.4% in the Caucasian population, 1.1% in the African-derived population, 1.1% in the racially mixed
normal controls and 0% in the Parakanã Indians. In the African-derived population, the C282Y mutation was present on
chromosomes bearing the haplotype 6/1h according to Beutler and West (1997). Allelic frequency of the mutation C. 187C6G
(H63D) was 16.3% in the Caucasian population, 7.5% in the African-derived population, 9.8% in the racially mixed controls
and 0% in the Amerindians. The presence of these mutations in the African-derived population reflects the fact that these
subjects may have undergone a non-identified racial admixture in their past history. The absence of both defects in the
Amerindians suggests that these mutations have emerged after the migration of Polynesians to America, or that they may not
have reached the Polynesian population until after the migration to America had occurred
