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http://purl.uniprot.org/citations/21039223http://www.w3.org/2000/01/rdf-schema#comment"

Background

most hereditary hemochromatosis (HH) patients are homozygous for the p.C282Y mutation in the HFE gene. Some studies reported that HH phenotypic expression could be modulated by genetic factors such as HJV and HAMP gene mutations.

Aims

the aims of this study were to identify HJV and HAMP mutations and to analyze their impact on HH phenotype in non-p.C282Y homozygous individuals.

Methods

Twenty-four Brazilian patients with primary iron overload and non-p.C282Y homozygous genotype (transferrin saturation >50% in women and >60% in men and absence of secondary causes) were selected. Subsequent bidirectional sequencing of the HJV and HAMP exons was performed.

Results

sequencing revealed a substitution in heterozygosis, c.929C > G, which corresponds to p.A310G polymorphism in HJV exon 4 (rs7540883). In the same gene, in another individual, an IVS1-36C > G intronic variant was detected in heterozygosis. In the HAMP gene, an IVS3 + 42G > A intronic variant was identified. There were six (25.0%) patients carrying a heterozygous genotype for the HFE p.C282Y and nine (37.5%) patients carrying a heterozygous genotype for the HFE p.H63D.

Conclusion

HJV p.A310G polymorphism and two intronic variants were found, but none of these alterations were associated with digenic inheritance with the HFE gene. Our data indicate that HJV and HAMP functional mutations are not frequent in these patients."xsd:string
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http://purl.uniprot.org/citations/21039223http://purl.uniprot.org/core/author"Krieger J.E."xsd:string
http://purl.uniprot.org/citations/21039223http://purl.uniprot.org/core/author"Pereira A.C."xsd:string
http://purl.uniprot.org/citations/21039223http://purl.uniprot.org/core/author"Cancado R.D."xsd:string
http://purl.uniprot.org/citations/21039223http://purl.uniprot.org/core/author"Hirata M.H."xsd:string
http://purl.uniprot.org/citations/21039223http://purl.uniprot.org/core/author"Hirata R.D."xsd:string
http://purl.uniprot.org/citations/21039223http://purl.uniprot.org/core/author"Figueiredo M.S."xsd:string
http://purl.uniprot.org/citations/21039223http://purl.uniprot.org/core/author"Guerra-Shinohara E.M."xsd:string
http://purl.uniprot.org/citations/21039223http://purl.uniprot.org/core/author"Schettert I.T."xsd:string
http://purl.uniprot.org/citations/21039223http://purl.uniprot.org/core/author"Chiattone C.S."xsd:string
http://purl.uniprot.org/citations/21039223http://purl.uniprot.org/core/author"de Lima Santos P.C."xsd:string
http://purl.uniprot.org/citations/21039223http://purl.uniprot.org/core/date"2010"xsd:gYear
http://purl.uniprot.org/citations/21039223http://purl.uniprot.org/core/name"Genet Test Mol Biomarkers"xsd:string
http://purl.uniprot.org/citations/21039223http://purl.uniprot.org/core/pages"803-806"xsd:string
http://purl.uniprot.org/citations/21039223http://purl.uniprot.org/core/title"Hemojuvelin and hepcidin genes sequencing in Brazilian patients with primary iron overload."xsd:string
http://purl.uniprot.org/citations/21039223http://purl.uniprot.org/core/volume"14"xsd:string
http://purl.uniprot.org/citations/21039223http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/21039223
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