HFE mutations in patients with iron overload in Santa Catarina: a cross-sectional study
ABSTRACT BACKGROUND: Investigating the frequency and characteristics of iron overload cases with HFE gene mutation is crucial, given the population-level risks associated with excessive iron. OBJECTIVE: To determine the frequency of HFE mutations in patients with iron overload in Santa Catarina, B...
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Associação Paulista de Medicina
2025-07-01
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| Series: | São Paulo Medical Journal |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802025000400204&lng=en&tlng=en |
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| author | Cristiane Manfé Pagliosa Vivian Karla Brognoli Franco Thiago Sousa Matias Bruno Vieira Dias Andrea Thives de Carvalho Hoepers |
| author_facet | Cristiane Manfé Pagliosa Vivian Karla Brognoli Franco Thiago Sousa Matias Bruno Vieira Dias Andrea Thives de Carvalho Hoepers |
| author_sort | Cristiane Manfé Pagliosa |
| collection | DOAJ |
| description | ABSTRACT BACKGROUND: Investigating the frequency and characteristics of iron overload cases with HFE gene mutation is crucial, given the population-level risks associated with excessive iron. OBJECTIVE: To determine the frequency of HFE mutations in patients with iron overload in Santa Catarina, Brazil. DESIGN AND SETTING: A cross-sectional study of patients with iron overload at the Ambulatory Department of the Centro de Hematologia e Hemoterapia de Santa Catarina (Hemorrede-HEMOSC) in Santa Catarina. METHODS: HFE genotype frequencies were determined, and a division were made between carriers of HFE -C282Y/C282Y mutations and carriers of other HFE-non-C282Y/C282Y mutations, according to each region of Santa Catarina. Binary logistic regression was used for association between sex and age with genetic mutation trait. RESULTS: Among the 1,022 patients, 10.4% had secondary hemochromatosis, and 89.6% were evaluated for iron overload due to hereditary hemochromatosis (HH). Of these, 367 underwent genetic testing, which revealed HFE mutations in 77.3%. Most patients with HFE mutations had non-C282Y/C282Y-hemochromatosis, especially H63D/WT (> 39%), regardless of the Santa Catarina region. The frequency of C282Y/C282Y was higher in the West (20.9%) and North (28.3%) regions. Adjusted association analysis showed that men have an increased chance of hemochromatosis when involving 'non-C282Y/C282Y' mutations (OR: 2.77; 95% CI: 1.60–6.608). CONCLUSIONS: The data show the magnitude and characteristics of iron overload cases with HFE mutations in Santa Catarina. As most patients referred for treatment have H63D mutation, we suggest further studies to assess whether other factors, including dietary habits and mandatory iron fortification policies, contribute to iron overload or HH manifestation. |
| format | Article |
| id | doaj-art-a5fe063df8284ea2ae8ed4714c504074 |
| institution | DOAJ |
| issn | 1806-9460 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | Associação Paulista de Medicina |
| record_format | Article |
| series | São Paulo Medical Journal |
| spelling | doaj-art-a5fe063df8284ea2ae8ed4714c5040742025-08-20T02:44:42ZengAssociação Paulista de MedicinaSão Paulo Medical Journal1806-94602025-07-01143410.1590/1516-3180.2023.0359.r1.07032025HFE mutations in patients with iron overload in Santa Catarina: a cross-sectional studyCristiane Manfé Pagliosahttps://orcid.org/0000-0002-0553-4621Vivian Karla Brognoli Francohttps://orcid.org/0000-0002-0297-1455Thiago Sousa Matiashttps://orcid.org/0000-0003-0241-3776Bruno Vieira Diashttps://orcid.org/0000-0003-4717-1950Andrea Thives de Carvalho Hoepershttps://orcid.org/0000-0002-1615-486XABSTRACT BACKGROUND: Investigating the frequency and characteristics of iron overload cases with HFE gene mutation is crucial, given the population-level risks associated with excessive iron. OBJECTIVE: To determine the frequency of HFE mutations in patients with iron overload in Santa Catarina, Brazil. DESIGN AND SETTING: A cross-sectional study of patients with iron overload at the Ambulatory Department of the Centro de Hematologia e Hemoterapia de Santa Catarina (Hemorrede-HEMOSC) in Santa Catarina. METHODS: HFE genotype frequencies were determined, and a division were made between carriers of HFE -C282Y/C282Y mutations and carriers of other HFE-non-C282Y/C282Y mutations, according to each region of Santa Catarina. Binary logistic regression was used for association between sex and age with genetic mutation trait. RESULTS: Among the 1,022 patients, 10.4% had secondary hemochromatosis, and 89.6% were evaluated for iron overload due to hereditary hemochromatosis (HH). Of these, 367 underwent genetic testing, which revealed HFE mutations in 77.3%. Most patients with HFE mutations had non-C282Y/C282Y-hemochromatosis, especially H63D/WT (> 39%), regardless of the Santa Catarina region. The frequency of C282Y/C282Y was higher in the West (20.9%) and North (28.3%) regions. Adjusted association analysis showed that men have an increased chance of hemochromatosis when involving 'non-C282Y/C282Y' mutations (OR: 2.77; 95% CI: 1.60–6.608). CONCLUSIONS: The data show the magnitude and characteristics of iron overload cases with HFE mutations in Santa Catarina. As most patients referred for treatment have H63D mutation, we suggest further studies to assess whether other factors, including dietary habits and mandatory iron fortification policies, contribute to iron overload or HH manifestation.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802025000400204&lng=en&tlng=enIron overloadHFE protein, humanMutationHereditary hemochromatosisC282Y mutationH63D mutationS65C mutationHFE genotype frequency |
| spellingShingle | Cristiane Manfé Pagliosa Vivian Karla Brognoli Franco Thiago Sousa Matias Bruno Vieira Dias Andrea Thives de Carvalho Hoepers HFE mutations in patients with iron overload in Santa Catarina: a cross-sectional study São Paulo Medical Journal Iron overload HFE protein, human Mutation Hereditary hemochromatosis C282Y mutation H63D mutation S65C mutation HFE genotype frequency |
| title | HFE mutations in patients with iron overload in Santa Catarina: a cross-sectional study |
| title_full | HFE mutations in patients with iron overload in Santa Catarina: a cross-sectional study |
| title_fullStr | HFE mutations in patients with iron overload in Santa Catarina: a cross-sectional study |
| title_full_unstemmed | HFE mutations in patients with iron overload in Santa Catarina: a cross-sectional study |
| title_short | HFE mutations in patients with iron overload in Santa Catarina: a cross-sectional study |
| title_sort | hfe mutations in patients with iron overload in santa catarina a cross sectional study |
| topic | Iron overload HFE protein, human Mutation Hereditary hemochromatosis C282Y mutation H63D mutation S65C mutation HFE genotype frequency |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802025000400204&lng=en&tlng=en |
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