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Analysis of HFE And Non-HFE Gene Mutations in Brazilian Patients with Hemochromatosis
BACKGROUND: Approximately one-half of Brazilian patients with hereditary hemochromatosis (HH) are neither homozygous for the C282Y mutation nor compound heterozygous for the H63D and C282Y mutations that are associated with HH in Caucasians. Other mutations have been described in the HFE gene as wel...
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Formato: | Texto |
Lenguaje: | English |
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Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
2009
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2745139/ https://www.ncbi.nlm.nih.gov/pubmed/19759876 http://dx.doi.org/10.1590/S1807-59322009000900003 |
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author | Bittencourt, Paulo Lisboa Marin, Maria Lúcia Carnevale Couto, Cláudia Alves Cançado, Eduardo Luiz Rachid Carrilho, Flair José Goldberg, Anna Carla |
author_facet | Bittencourt, Paulo Lisboa Marin, Maria Lúcia Carnevale Couto, Cláudia Alves Cançado, Eduardo Luiz Rachid Carrilho, Flair José Goldberg, Anna Carla |
author_sort | Bittencourt, Paulo Lisboa |
collection | PubMed |
description | BACKGROUND: Approximately one-half of Brazilian patients with hereditary hemochromatosis (HH) are neither homozygous for the C282Y mutation nor compound heterozygous for the H63D and C282Y mutations that are associated with HH in Caucasians. Other mutations have been described in the HFE gene as well as in genes involved in iron metabolism, such as transferrin receptor 2 (TfR2) and ferroportin 1 (SCL40A1). AIMS: To evaluate the role of HFE, TfR2 and SCL40A1 mutations in Brazilian subjects with HH. PATIENTS AND METHODS: Nineteen male subjects (median age 42 [range: 20–72] years) with HH were evaluated using the Haemochromatosis StripAssay A®. This assay is capable of detecting twelve HFE mutations, which are V53M, V59M, H63D, H63H, S65C, Q127H, P160delC, E168Q, E168X, W169X, C282Y and Q283, four TfR2 mutations, which are E60X, M172K, Y250X, AVAQ594-597del, and two SCL40A1 mutations, which are N144H and V162del. RESULTS: In our cohort, nine (47%) patients were homozygous for the C282Y mutation, two (11%) were heterozygous for the H63D mutation, and one each (5%) was either heterozygous for C282Y or compound heterozygous for C282Y and H63D. No other mutations in the HFE, TfR2 or SCL40A1 genes were observed in the studied patients. CONCLUSIONS: One-third of Brazilian subjects with the classical phenotype of HH do not carry HFE or other mutations that are currently associated with the disease in Caucasians. This observation suggests a role for other yet unknown mutations in the aforementioned genes or in other genes involved in iron homeostasis in the pathogenesis of HH in Brazil. |
format | Text |
id | pubmed-2745139 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2009 |
publisher | Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo |
record_format | MEDLINE/PubMed |
spelling | pubmed-27451392009-09-16 Analysis of HFE And Non-HFE Gene Mutations in Brazilian Patients with Hemochromatosis Bittencourt, Paulo Lisboa Marin, Maria Lúcia Carnevale Couto, Cláudia Alves Cançado, Eduardo Luiz Rachid Carrilho, Flair José Goldberg, Anna Carla Clinics (Sao Paulo) Clinical Sciences BACKGROUND: Approximately one-half of Brazilian patients with hereditary hemochromatosis (HH) are neither homozygous for the C282Y mutation nor compound heterozygous for the H63D and C282Y mutations that are associated with HH in Caucasians. Other mutations have been described in the HFE gene as well as in genes involved in iron metabolism, such as transferrin receptor 2 (TfR2) and ferroportin 1 (SCL40A1). AIMS: To evaluate the role of HFE, TfR2 and SCL40A1 mutations in Brazilian subjects with HH. PATIENTS AND METHODS: Nineteen male subjects (median age 42 [range: 20–72] years) with HH were evaluated using the Haemochromatosis StripAssay A®. This assay is capable of detecting twelve HFE mutations, which are V53M, V59M, H63D, H63H, S65C, Q127H, P160delC, E168Q, E168X, W169X, C282Y and Q283, four TfR2 mutations, which are E60X, M172K, Y250X, AVAQ594-597del, and two SCL40A1 mutations, which are N144H and V162del. RESULTS: In our cohort, nine (47%) patients were homozygous for the C282Y mutation, two (11%) were heterozygous for the H63D mutation, and one each (5%) was either heterozygous for C282Y or compound heterozygous for C282Y and H63D. No other mutations in the HFE, TfR2 or SCL40A1 genes were observed in the studied patients. CONCLUSIONS: One-third of Brazilian subjects with the classical phenotype of HH do not carry HFE or other mutations that are currently associated with the disease in Caucasians. This observation suggests a role for other yet unknown mutations in the aforementioned genes or in other genes involved in iron homeostasis in the pathogenesis of HH in Brazil. Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo 2009-09 /pmc/articles/PMC2745139/ /pubmed/19759876 http://dx.doi.org/10.1590/S1807-59322009000900003 Text en Copyright © 2009 Hospital das Clínicas da FMUSP |
spellingShingle | Clinical Sciences Bittencourt, Paulo Lisboa Marin, Maria Lúcia Carnevale Couto, Cláudia Alves Cançado, Eduardo Luiz Rachid Carrilho, Flair José Goldberg, Anna Carla Analysis of HFE And Non-HFE Gene Mutations in Brazilian Patients with Hemochromatosis |
title | Analysis of HFE And Non-HFE Gene Mutations in Brazilian Patients with Hemochromatosis |
title_full | Analysis of HFE And Non-HFE Gene Mutations in Brazilian Patients with Hemochromatosis |
title_fullStr | Analysis of HFE And Non-HFE Gene Mutations in Brazilian Patients with Hemochromatosis |
title_full_unstemmed | Analysis of HFE And Non-HFE Gene Mutations in Brazilian Patients with Hemochromatosis |
title_short | Analysis of HFE And Non-HFE Gene Mutations in Brazilian Patients with Hemochromatosis |
title_sort | analysis of hfe and non-hfe gene mutations in brazilian patients with hemochromatosis |
topic | Clinical Sciences |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2745139/ https://www.ncbi.nlm.nih.gov/pubmed/19759876 http://dx.doi.org/10.1590/S1807-59322009000900003 |
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