Background: Hereditary hemochromatosis (HH) is a disorder of iron storage that results in iron overload. It's prevalence in Puerto Rico (PR) is unknown and the condition frequently undiagnosed.
Purpose: Determine the prevalence of HH in the PR Veteran population.
Methods: Patients attending the San Juan VA Medical Center Laboratory for routine tests were invited to participate. Basic demographic data, symptoms related questionnaire, fasting samples for unbound iron binding capacity (UIBC) and serum iron were obtained. Transferrin saturation (TS) > or =45% was considered as iron overload. Patients with elevated TS had a second test done to confirm iron overload. Genetic testing was performed to patients with sustained elevated TS.
Results: Data from 521 of the 559 recruited patients was available for analysis. 59 patients had TS > or =45%. Iron overload was confirmed in eleven patients. Two patients were lost to follow up; one had secondary causes for iron overload. Eight patients underwent genetic testing. Genetic mutations associated with hemochromatosis were found in four patients.
Conclusion: The estimated prevalence of confirmed iron overload in our population is 2%, similar to one in the United States, while the prevalence of genetic mutations associated to hemochromatosis is 0.76%, which is slightly higher. Both genetic mutations (C282Y, H63D) are equally seen in the evaluated population which is different from reports elsewhere. Physician awareness of the prevalence of HH in PR may result in increased screening and early identification of the condition.