Iron overload is not the same everywhere: Particularities of iron-metabolism gene mutations in Brazil and a proposal for the investigation and management of iron overload in this population
There is no physiological mechanism for the excretion of iron in humans, and excess iron may lead to severe tissue damage if not adequately treated. Iron overload can be caused by genetic factors (hemochromatosis) or acquired conditions (e.g., ineffective erythropoiesis, transfusions, iatrogenic iro...
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| Format: | Article |
| Language: | English |
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Elsevier
2025-04-01
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| Series: | Hematology, Transfusion and Cell Therapy |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2531137925001142 |
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| author | Paula de Melo Campos Ana Carolina Toreli Dulcinéia Martins de Albuquerque Fernando Ferreira Costa |
| author_facet | Paula de Melo Campos Ana Carolina Toreli Dulcinéia Martins de Albuquerque Fernando Ferreira Costa |
| author_sort | Paula de Melo Campos |
| collection | DOAJ |
| description | There is no physiological mechanism for the excretion of iron in humans, and excess iron may lead to severe tissue damage if not adequately treated. Iron overload can be caused by genetic factors (hemochromatosis) or acquired conditions (e.g., ineffective erythropoiesis, transfusions, iatrogenic iron treatment, viral hepatitis, alcohol intake, severe liver disease, metabolic dysfunction), and, in many cases, by a conjunction of these factors. Historically, guidelines for the genetic investigation of patients with iron overload have been based on data obtained from Caucasian individuals in Europe and North America. However, due to the genetic heterogeneity of iron overload gene mutations worldwide, these recommendations might not be applicable to other ethnic groups. This study analyzed previously published genetic data obtained from Brazilian patients with iron overload and found a relevant but small prevalence of HFE C282Y/C282Y patients when compared to European populations, while mutations of the TFR2, SCL40A1, HJV, HAMP, BMP6 and SLC11A1 genes seem to be important. This study proposes an adapted algorithm for the investigation and management of iron overload in Brazil. |
| format | Article |
| id | doaj-art-7be3a02e24f04da8a053bb77a7f01a78 |
| institution | OA Journals |
| issn | 2531-1379 |
| language | English |
| publishDate | 2025-04-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Hematology, Transfusion and Cell Therapy |
| spelling | doaj-art-7be3a02e24f04da8a053bb77a7f01a782025-08-20T02:29:42ZengElsevierHematology, Transfusion and Cell Therapy2531-13792025-04-0147210384610.1016/j.htct.2025.103846Iron overload is not the same everywhere: Particularities of iron-metabolism gene mutations in Brazil and a proposal for the investigation and management of iron overload in this populationPaula de Melo Campos0Ana Carolina Toreli1Dulcinéia Martins de Albuquerque2Fernando Ferreira Costa3Corresponding author. Paula de Melo Campos, Carlos Chagas St, 480, Cidade Universitária Zeferino Vaz, Campinas, São Paulo, Brazil, 13083-878.; Hemocentro, Universidade Estadual de Campinas - Unicamp, Campinas, São Paulo, BrazilHemocentro, Universidade Estadual de Campinas - Unicamp, Campinas, São Paulo, BrazilHemocentro, Universidade Estadual de Campinas - Unicamp, Campinas, São Paulo, BrazilHemocentro, Universidade Estadual de Campinas - Unicamp, Campinas, São Paulo, BrazilThere is no physiological mechanism for the excretion of iron in humans, and excess iron may lead to severe tissue damage if not adequately treated. Iron overload can be caused by genetic factors (hemochromatosis) or acquired conditions (e.g., ineffective erythropoiesis, transfusions, iatrogenic iron treatment, viral hepatitis, alcohol intake, severe liver disease, metabolic dysfunction), and, in many cases, by a conjunction of these factors. Historically, guidelines for the genetic investigation of patients with iron overload have been based on data obtained from Caucasian individuals in Europe and North America. However, due to the genetic heterogeneity of iron overload gene mutations worldwide, these recommendations might not be applicable to other ethnic groups. This study analyzed previously published genetic data obtained from Brazilian patients with iron overload and found a relevant but small prevalence of HFE C282Y/C282Y patients when compared to European populations, while mutations of the TFR2, SCL40A1, HJV, HAMP, BMP6 and SLC11A1 genes seem to be important. This study proposes an adapted algorithm for the investigation and management of iron overload in Brazil.http://www.sciencedirect.com/science/article/pii/S2531137925001142Iron overloadGene mutationsEthnic groupsGenetic heterogeneity |
| spellingShingle | Paula de Melo Campos Ana Carolina Toreli Dulcinéia Martins de Albuquerque Fernando Ferreira Costa Iron overload is not the same everywhere: Particularities of iron-metabolism gene mutations in Brazil and a proposal for the investigation and management of iron overload in this population Hematology, Transfusion and Cell Therapy Iron overload Gene mutations Ethnic groups Genetic heterogeneity |
| title | Iron overload is not the same everywhere: Particularities of iron-metabolism gene mutations in Brazil and a proposal for the investigation and management of iron overload in this population |
| title_full | Iron overload is not the same everywhere: Particularities of iron-metabolism gene mutations in Brazil and a proposal for the investigation and management of iron overload in this population |
| title_fullStr | Iron overload is not the same everywhere: Particularities of iron-metabolism gene mutations in Brazil and a proposal for the investigation and management of iron overload in this population |
| title_full_unstemmed | Iron overload is not the same everywhere: Particularities of iron-metabolism gene mutations in Brazil and a proposal for the investigation and management of iron overload in this population |
| title_short | Iron overload is not the same everywhere: Particularities of iron-metabolism gene mutations in Brazil and a proposal for the investigation and management of iron overload in this population |
| title_sort | iron overload is not the same everywhere particularities of iron metabolism gene mutations in brazil and a proposal for the investigation and management of iron overload in this population |
| topic | Iron overload Gene mutations Ethnic groups Genetic heterogeneity |
| url | http://www.sciencedirect.com/science/article/pii/S2531137925001142 |
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