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Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data
BACKGROUND: Hereditary hemochromatosis (HH) is a common inherited disorder of iron metabolism in Northern European populations. The discovery of a candidate gene in 1996 (HFE), and of its main mutation (C282Y), has radically altered the way to diagnose this disease. The aim of this study was to asse...
Autores principales: | , , , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
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BioMed Central
2005
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180708/ https://www.ncbi.nlm.nih.gov/pubmed/15929798 http://dx.doi.org/10.1186/1471-2350-6-24 |
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author | Scotet, Virginie Le Gac, Gérald Mérour, Marie-Christine Mercier, Anne-Yvonne Chanu, Brigitte Ka, Chandran Mura, Catherine Nousbaum, Jean-Baptiste Férec, Claude |
author_facet | Scotet, Virginie Le Gac, Gérald Mérour, Marie-Christine Mercier, Anne-Yvonne Chanu, Brigitte Ka, Chandran Mura, Catherine Nousbaum, Jean-Baptiste Férec, Claude |
author_sort | Scotet, Virginie |
collection | PubMed |
description | BACKGROUND: Hereditary hemochromatosis (HH) is a common inherited disorder of iron metabolism in Northern European populations. The discovery of a candidate gene in 1996 (HFE), and of its main mutation (C282Y), has radically altered the way to diagnose this disease. The aim of this study was to assess the impact of the HFE gene discovery on the clinical presentation and epidemiology of HH. METHODS: We studied our cohort of 415 patients homozygous for the C282Y allele and included in a phlebotomy program in a blood centre in western Brittany, France. RESULTS: In this cohort, 56.9% of the patients were male and 21.9% began their phlebotomy program before the implementation of the genetic test. A significant decrease in the sex ratio was noticed following implementation of this DNA test, from 3.79 to 1.03 (p < 10(-5)), meaning that the proportion of diagnosed females relatives to males greatly increased. The profile of HH patients at diagnosis changed after the DNA test became available. Serum ferritin and iron values were lower and there was a reduced frequency of clinical signs displayed at diagnosis, particularly skin pigmentation (20.1 vs. 40.4%, OR = 0.37, p < 0.001) and hepatomegaly (11.0 vs. 22.7%, OR = 0.42, p = 0.006). In contrast, fatigue became a more common symptom at diagnosis (68.0 vs. 51.2%, OR = 2.03, p = 0.004). CONCLUSION: This study highlights the importance of the HFE gene discovery, which has simplified the diagnosis of HH and modified its clinical presentation and epidemiology. This study precisely measures these changes. Enhanced diagnosis of HFE-related HH at an early stage and implementation of phlebotomy treatment are anticipated to maintain normal life expectancy for these patients. |
format | Text |
id | pubmed-1180708 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2005 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-11807082005-07-27 Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data Scotet, Virginie Le Gac, Gérald Mérour, Marie-Christine Mercier, Anne-Yvonne Chanu, Brigitte Ka, Chandran Mura, Catherine Nousbaum, Jean-Baptiste Férec, Claude BMC Med Genet Research Article BACKGROUND: Hereditary hemochromatosis (HH) is a common inherited disorder of iron metabolism in Northern European populations. The discovery of a candidate gene in 1996 (HFE), and of its main mutation (C282Y), has radically altered the way to diagnose this disease. The aim of this study was to assess the impact of the HFE gene discovery on the clinical presentation and epidemiology of HH. METHODS: We studied our cohort of 415 patients homozygous for the C282Y allele and included in a phlebotomy program in a blood centre in western Brittany, France. RESULTS: In this cohort, 56.9% of the patients were male and 21.9% began their phlebotomy program before the implementation of the genetic test. A significant decrease in the sex ratio was noticed following implementation of this DNA test, from 3.79 to 1.03 (p < 10(-5)), meaning that the proportion of diagnosed females relatives to males greatly increased. The profile of HH patients at diagnosis changed after the DNA test became available. Serum ferritin and iron values were lower and there was a reduced frequency of clinical signs displayed at diagnosis, particularly skin pigmentation (20.1 vs. 40.4%, OR = 0.37, p < 0.001) and hepatomegaly (11.0 vs. 22.7%, OR = 0.42, p = 0.006). In contrast, fatigue became a more common symptom at diagnosis (68.0 vs. 51.2%, OR = 2.03, p = 0.004). CONCLUSION: This study highlights the importance of the HFE gene discovery, which has simplified the diagnosis of HH and modified its clinical presentation and epidemiology. This study precisely measures these changes. Enhanced diagnosis of HFE-related HH at an early stage and implementation of phlebotomy treatment are anticipated to maintain normal life expectancy for these patients. BioMed Central 2005-06-01 /pmc/articles/PMC1180708/ /pubmed/15929798 http://dx.doi.org/10.1186/1471-2350-6-24 Text en Copyright © 2005 Scotet et al; licensee BioMed Central Ltd. |
spellingShingle | Research Article Scotet, Virginie Le Gac, Gérald Mérour, Marie-Christine Mercier, Anne-Yvonne Chanu, Brigitte Ka, Chandran Mura, Catherine Nousbaum, Jean-Baptiste Férec, Claude Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data |
title | Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data |
title_full | Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data |
title_fullStr | Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data |
title_full_unstemmed | Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data |
title_short | Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data |
title_sort | impact of hfe genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180708/ https://www.ncbi.nlm.nih.gov/pubmed/15929798 http://dx.doi.org/10.1186/1471-2350-6-24 |
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