Frequency of the S65C mutation in the hemochromatosis gene in Brazil

Abstract

ABSTRACT. Development of hereditary hemochromatosis is associated with the C282Y, H63D or S65C mutations in the hemochromatosis gene. Though there is extensive knowledge about the former two, there is little information on the mechanism of action and the allelic frequency of the S65C mutation. We examined the prevalence of the S65C mutation of the hemochromatosis gene in Brazilians with clinical suspicion of hereditary hemochromatosis. Genotyping for this mutation was carried out in 633 individuals with clinical suspicion of hereditary hemochromatosis, using the polymerase chain reaction, followed by enzymatic digestion. The sample comprised 77.1% men and 22.9% women, giving a ratio of approximately 3:1; the mean age was 48.8 + 13.8 years. More than half (57.3%) of the individuals in the sample were 41 to 60 years old. The frequency of heterozygotes for this mutation was 0.016; no homozygous mutant patients were found. S65C mutation in BrazilThis is the first analysis of the S65C mutation in individuals suspected of having hereditary hemochromatosis in Brazil.

Effects of Iron Overload on the Activity of Na,K-ATPase and Lipid Profile of the Human Erythrocyte Membrane

“…Because no studies on this subject have been previously published in Minas Gerais, a contextual evaluation of our results is not yet possible. It is likely that S65C mutations in the HFE gene were not identified in our study due to the low frequency of this mutation and the limited number of patients analyzed [ 70 ]. The frequency of the H63D mutation was higher for both the case (35.4%) and control subjects (17.9%), as expected [ 5 , 59 , 61 – 62 , 66 ].…”

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

“…The H63D mutation is two or three times more frequent than C282Y mutation and the prevalence of heterozygous and homozygous for H63D mutation varies between 15 and 40% and 2.5 and 3.6%, respectively, and the frequency of C282Y/H63D genotype is approximately 2% (15,16). Regarding the S65C mutation, the frequency in Caucasians varies between 1% and 4% (9,10,18,19).…”

Hereditary hemochromatosis beyond hyperferritinemia: Clinical and laboratory investigation of the patient’s profile submitted to phlebotomy in two reference centers in southern Brazil

“…Besides, no other study in the same geographical region where our reserach was performed, has been reported. It is also worthy of note that, among the available studies, there is a disparity in the sample number and in the eligibility criteria ( Bittencourt et al, 2002 , 2009 ; Oliveira et al., 2009 ; Santos et al, 2011 ; Leão et al, 2014 ). As shown in Figure 4 , which compares different groups of genotypes, comorbidities such as alcoholism or other diseases that may affect iron metabolism do not exclude the diagnosis of HH.…”