| Full text | |
| Author(s): |
Junior de Lima Santos, Paulo Caleb
[1]
;
Pereira, Alexandre C.
[2]
;
Cancado, Rodolfo D.
[3]
;
Schettert, Isolmar T.
[2, 4]
;
Hirata, Rosario D. C.
[1]
;
Hirata, Mario H.
[1]
;
Figueiredo, Maria Stella
[5]
;
Chiattone, Carlos S.
[3]
;
Krieger, Jose E.
[2]
;
Guerra-Shinohara, Elvira M.
[1]
Total Authors: 10
|
| Affiliation: | [1] Univ Sao Paulo, Sch Pharmaceut Sci, Dept Clin Chem & Toxicol, BR-05508900 Sao Paulo - Brazil
[2] Univ Sao Paulo, Sch Med, Inst Heart, Lab Genet & Mol Cardiol, BR-05508900 Sao Paulo - Brazil
[3] Santa Casa Blood Ctr Sao Paulo, Santa Casa Sch Med, Dept Hematol & Oncol, Sao Paulo - Brazil
[4] Novo Atibaia Hosp, Sao Paulo - Brazil
[5] EPM UNIFESP, Dept Hematol & Hemotherapy, Sao Paulo - Brazil
Total Affiliations: 5
|
| Document type: | Journal article |
| Source: | GENETIC TESTING AND MOLECULAR BIOMARKERS; v. 14, n. 6, p. 803-806, DEC 2010. |
| Web of Science Citations: | 6 |
| Abstract | |
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. (AU) | |