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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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Autores principales: Bittencourt, Paulo Lisboa, Marin, Maria Lúcia Carnevale, Couto, Cláudia Alves, Cançado, Eduardo Luiz Rachid, Carrilho, Flair José, Goldberg, Anna Carla
Formato: Texto
Lenguaje:English
Publicado: 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.
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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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