Prevalence of C282Y and H63D mutations in the HFE gene in patients from São Paulo and Southern Brazil
Year: 2016
Type: article
Study design: Observational Study
Abstract: ABSTRACT Hereditary hemochromatosis (HH) is an autosomal recessive disorder caused by mutations in the HFE gene; it is characterized by the risk of iron overload. C282Y and H63D are the most associated mutations in HH. This study aimed to determine the frequency of mutations in the south of Brazil and São Paulo. It used the real-time polymerase chain reaction (PCR) technique and the results collected from Genolab data. In 90 individuals, 46.67% had at least one of the mutations for HH. There is a high prevalence of these mutations in both populations, therefore searching for patients under clinical suspicion is recommended.
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W2403263310