Iron levels in the body are usually assessed by measuring ferritin, a protein that reflects the amount of iron stored in tissues. Ferritin is one of the main tools doctors rely on when diagnosing iron deficiency and deciding whether a patient needs iron treatment. However, a clinical team at Providence Healthcare recently identified a genetic variant—Ferritin Light Chain (FTL) Tyr31Ser—in a member of the Heiltsuk Nation. This variant causes unusually low ferritin levels even when a person’s iron stores are normal. As a result, ferritin test results may be misleading for individuals who carry this variant.

This issue is especially important for the Heiltsuk and Kitasoo/Xai’Xais Nations, where low ferritin levels are commonly observed. Without knowing whether low ferritin is caused by true iron deficiency or this genetic variant, clinicians may unintentionally misdiagnose patients. This can lead to unnecessary iron supplementation, which carries risks such as iron overload and long term organ damage. It can also undermine trust between patients and healthcare providers if treatments do not match people’s actual health needs.

Working with healthcare providers at the Heiltsuk Hospital and members of the Heiltsuk and Kitasoo/Xai’Xais First Nation, the primary goal of this project is to determine how common the FTL Tyr31Ser variant is in these two Indigenous communities and to understand its impact on ferritin testing and iron related diagnoses. The study will also assess whether genetic testing should be added to standard care in these communities, to ensure ferritin results are interpreted accurately.

By clarifying when low ferritin truly signals iron deficiency, this project will improve diagnostic accuracy, reduce unnecessary or unsafe treatments, and support culturally safe, equitable care. The findings will help guide better clinical decision making, strengthen trust in the healthcare system, and prevent avoidable health complications and healthcare costs. Ultimately, this work aims to ensure that iron related conditions are diagnosed and treated appropriately for all patients.