Analysis of HFE Genes C282Y, H63D, and S65D in Patients With Hyperferritinemia From Northeastern Brazil

Abstract

Due to the high prevalence of hemochromatosis, its genetic diagnosis has become a challenge, especially in the high-risk group.

Molecular epidemiology of HFE gene polymorphic variants (C282Y, H63D and S65C) in the population of Espírito Santo, Brazil

“…The prevalence of the HFE gene alleles C282Y, H63D and S65C in the general healthy population in Brazil ranges from 1.15-2.19%, 9.54-14.57 and 0.31-1%, respectively. At the same time, for the patient group, the alleles range from 7.36-50% for C282Y, 6.25-26.59% for H63D and 0-2.23% for S65C (Bueno et al, 2006;Oliveira et al, 2006;Cançado et al, 2006;Cançado et al, 2007;Santos et al, 2010;Santos et al, 2011;Leão et al, 2014;Dionísio Tavares Niewiadonski et al, 2015). The different number of samples and the region of each study can explain the variations in the frequency of the HFE gene polymorphisms in Brazil.…”

“…Hereditary hemochromatosis (HH) is an autosomal recessive disorder of iron metabolism with incomplete penetrance and variable expressivity (Møller et al, 2010;Santos et al, 2012;Leão et al, 2014). It is characterized by a progressive iron accumulation and abnormal deposition in several organs, such as the liver, heart, pancreas, joints, and skin, leading to cirrhosis, heart failure, diabetes, arthritis, hypogonadism, skin pigmentation and hepatocellular carcinoma (Møller et al, 2010;Neghina and Anghel, 2011;Salgia and Brown, 2015).…”

“…A transversion of cytosine to guanine at position 187 of the HFE gene results in the H63D common substitution of histidine for aspartic acid at amino acid position 63. Finally, the substitution of the amino acid cysteine for serine at position 65 because of a transversion of adenine to thymine at position 193 of the HFE gene causes the S65C polymorphism (Santos et al, 2012;Leão et al, 2014;Salgia and Brown, 2015).…”

Avaliação de variantes do gene <i>TMPRSS6</i> e sua relação com o <i>status</i> de ferro em condições de eritropoese normal e aumentada

“…Em nossas análises, nenhuma evidência de associação da hiperferritinemia com o alelo HFE 63D foi também encontrada. Sugere-se assim que, tal como atestado entre indivíduos sem hemoglobinopatias (LEÃO et al, 2014;SANTOS et al, 2011;CANÇADO et al, 2006), a genotipagem das variantes HFE 282Y e HFE 63D…”

Hereditary hemochromatosis

“…The findings of H63D homozygosity or heterozygosity is of uncertain significance since most will not present iron overload. 27,28 Keywords: hemochromatosis, Iron Overload, Liver Diseases, Pancreatic Disease.…”