Hereditary hemochromatosis

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

L. N. R. Alves, Santos, E. V. W., Stur, E., Conforti, A. M. A. Silva, Louro, I. D., Alves, L. N. R., Santos, E. V. W., Stur, E., Conforti, A. M. A. Silva, Louro, I. D., Alves, L. N. R., Santos, E. V. W., Stur, E., Conforti, A. M. A. Silva, and Louro, I. D., “Molecular epidemiology of HFE gene polymorphic variants (C282Y, H63D and S65C) in the population of Espírito Santo, Brazil”, vol. 15, p. -, 2016.

Hereditary hemochromatosis (HH) is an autosomal recessive disorder that leads to progressive iron accumulation and may cause cirrhosis, hepatocellular carcinoma, diabetes, and heart failure. Most cases of HH have been linked to mutations in genes associated with iron homeostasis. There have been three major variants in the high Fe (HFE) gene associated with the disease: C282Y, H63D and S65C.

Screening for feature genes associated with hereditary hemochromatosis and functional analysis with DNA microarrays

J. Wang, Zhou, X., Zhao, J., Li, Z., and Li, X., “Screening for feature genes associated with hereditary hemochromatosis and functional analysis with DNA microarrays”, vol. 12, pp. 6240-6248, 2013.

The aim of this study was to identify feature genes that are associated with hereditary hemochromatosis (HHC; iron overload) in cardiac and skeletal muscle of mice. First, the expression profile GSE9726 was downloaded from Gene Expression Omnibus database which included 12 samples. Then the differentially expressed genes (DEGs) were identified by R language. Furthermore, the KUPS software was used to identify relationships in interactions among common DEGs in the cardiac and skeletal muscles. We then used the EASE software to obtain enriched pathways in a gene interaction network.

Frequency of the S65C mutation in the hemochromatosis gene in Brazil

V. C. Oliveira, Caxito, F. A., Gomes, K. B., Castro, A. M., Pardini, V. C., and Ferreira, A. C. S., “Frequency of the S65C mutation in the hemochromatosis gene in Brazil”, vol. 8, pp. 794-798, 2009.

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.

Lack of association of C282Y and H63D mutations in the hemochromatosis (HFE) gene with diabetes mellitus type 2 in a case-control study of women in Brazil

K. B. Gomes, Carvalho, M. G., Coelho, F. F., Rodrigues, I. F., Soares, A. L., Guimarães, D. A., and Fernandes, A. P., “Lack of association of C282Y and H63D mutations in the hemochromatosis (HFE) gene with diabetes mellitus type 2 in a case-control study of women in Brazil”, vol. 8, pp. 1285-1291, 2009.

Hereditary hemochromatosis is one of the most common autosomal recessive diseases; it is characterized by excess absorption of iron. Clinically, the major challenge is to diagnose increased iron deposition before irreversible tissue damage has occurred. C282Y and H63D are the main mutations related to hereditary hemochromatosis; these mutations have been reported to be associated with increased risk of developing diabetes mellitus type 2 (DM2). We investigated whether these mutations are associated with increased risk for the development of DM2 in women in Brazil.