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ORIGINAL RESEARCH article

Front. Med.
Sec. Hematology
Volume 11 - 2024 | doi: 10.3389/fmed.2024.1494527

A Decade of Iron Overload Disorders and Hemochromatosis: Clinical and Genetic Findings from a Specialized Center in Colombia

Provisionally accepted
Laura Camila Quiroga Cristancho Laura Camila Quiroga Cristancho 1María Alejandra Urbano María Alejandra Urbano 1H. A. Nati-Castillo H. A. Nati-Castillo 1María Alejandra Obando María Alejandra Obando 2Rigoberto Gómez-Gutiérrez Rigoberto Gómez-Gutiérrez 1Juan S. Izquierdo-Condoy Juan S. Izquierdo-Condoy 3*
  • 1 Universidad Libre, Cali, Colombia
  • 2 Departamento de Hematología, Hemato Oncólogos S.A, Cali, Colombia
  • 3 University of the Americas, Quito, Ecuador

The final, formatted version of the article will be published soon.

    Background: Iron overload disorders, including hereditary hemochromatosis (HH), are characterized by excessive iron accumulation, which can cause severe organ damage. HH is most associated with the C282Y mutation in Caucasian populations, but its prevalence and genetic profiles in Latin American populations remain underexplored.Objectives: To describe the clinical manifestations, genetic profiles, and biochemical characteristics of patients with suspected iron overload disorders in a specialized hematology center in Cali, Colombia.Methods: A retrospective observational study was conducted on 70 patients diagnosed with iron overload disorders between 2014 and 2024. Data on clinical presentation, laboratory results, imaging, and genetic mutations were collected. Statistical analyses, including chi-square tests and logistic regression, were used to evaluate factors associated with HH diagnosis.Results: Male patients constituted 64.3% of the sample, with a mean age of 56.1 years at diagnosis. Fatigue (27.1%) and joint pain (17.1%) were the most common symptoms. Of the total sample, 32.9% were diagnosed with hemochromatosis. The H63D mutation was the most prevalent (52.2%), while the C282Y mutation was rare. A predominance of both slight (100.0%) and limitrophe (58.3%) iron overload was identified among patients with hemochromatosis (p=0.036).Colombian patients with iron overload disorders show clinical, epidemiological, and biochemical profiles consistent with global patterns, yet exhibit distinct genetic diversity. Notably, they have a low prevalence of the C282Y mutation and a higher prevalence of the H63D mutation, differing from European HH profiles. Despite elevated ferritin and transferrin saturation, no significant clinical symptoms were observed, suggesting potential delays in diagnosis. These findings highlight the need

    Keywords: iron overload disorders1, hemochromatosis2, clinical characterization3, mutations4, low-and middle-income countries5, South America6

    Received: 11 Sep 2024; Accepted: 21 Nov 2024.

    Copyright: © 2024 Quiroga Cristancho, Urbano, Nati-Castillo, Obando, Gómez-Gutiérrez and Izquierdo-Condoy. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Juan S. Izquierdo-Condoy, University of the Americas, Quito, Ecuador

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