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Review
. 2025 Apr-Jun;47(2):103846.
doi: 10.1016/j.htct.2025.103846. Epub 2025 May 15.

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

Paula de Melo Campos  1 , Ana Carolina Toreli  2 , Dulcinéia Martins de Albuquerque  2 , Fernando Ferreira Costa  2
Affiliations
Review

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

Paula de Melo Campos et al. Hematol Transfus Cell Ther. 2025 Apr-Jun.

Abstract

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.

Keywords: Ethnic groups; Gene mutations; Genetic heterogeneity; Iron overload.

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Conflict of interest statement

Conflicts of interest The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
Algorithm proposed for the diagnosis of haemochromatosis in Brazilian patients. TS, transferrin saturation; CBC, complete blood count; IO, iron overload; HC, hemochromatosis; LIC, liver iron concentration; MRI, magnetic resonance imaging; CNS, central nervous system Genes, HFE, homeostatic iron regulator; TfR2, transferrin receptor 2; SLC11A1, solute carrier family 11 member 1; HJV, hemojuvelin BMP, co-receptor; HAMP, hepcidin antimicrobial peptide; TFRC, transferrin receptor; BMP6, bone morphogenetic protein 6; BMP2, bone morphogenetic protein 2; SLC40A1, solute carrier family 40 member.
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