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Updated: Sep 22, 2025
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Measurement of Tissue Non-Heme Iron Content using a Bathophenanthroline-Based Colorimetric Assay
Published on: January 31, 2022
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[Non-HFE hemochromatosis: a case report]
María Cristina Martínez-Ávila1, Esteban Toro-Trujillo2, Angelina Alvarez-Londoño3
1Departamento de Medicina Interna, Centro Hospitalario Serena del Mar. Cartagena, Colombia; Instituto de Cáncer, Centro Hospitalario Serena del Mar. Cartagena, Colombia.
Summary
Hereditary hemochromatosis (HH) is iron overload causing organ damage. This case highlights successful phlebotomy treatment for HH unrelated to HFE-gene mutations, improving patient health.
Area of Science:
- Genetics
- Hepatology
- Internal Medicine
Background:
- Hereditary hemochromatosis (HH) is a genetic disorder characterized by excessive iron accumulation in organs.
- The HFE gene mutation accounts for 90% of HH cases, leading to progressive iron overload and potential multi-organ dysfunction.
- Therapeutic phlebotomy is the standard treatment for managing HH.
Observation:
- A patient with severe liver fibrosis and persistently high ferrokinetic profile was diagnosed with HH.
- This diagnosis occurred five years after initial follow-up, and the HH was not associated with HFE-gene mutations.
- The patient's condition indicated a non-HFE-related genetic cause of iron overload.
Findings:
- The patient was managed with periodic therapeutic phlebotomies.
- This treatment led to a rapid and significant clinical improvement.
- A notable decrease in serum ferritin levels was observed post-treatment.
Implications:
- This case underscores the importance of considering non-HFE-related HH in patients with iron overload.
- It demonstrates the efficacy of phlebotomy in treating HH, even in cases without HFE mutations.
- Early diagnosis and consistent management are crucial for preventing HH-related complications and improving patient outcomes.
