Hemochromatosis

Overview

Hemochromatosis is a disorder of systemic iron overload in which excessive iron is absorbed from the diet and progressively deposited in parenchymal tissues, particularly the liver, heart, pancreas, joints, and endocrine glands. The hereditary form, most commonly linked to mutations in the HFE gene, disrupts the regulation of hepcidin, the master hormone controlling iron homeostasis; loss of appropriate hepcidin signaling permits unrestrained intestinal iron uptake and release from macrophages. Other genetic subtypes involve mutations affecting hemojuvelin, hepcidin itself, transferrin receptor 2, or ferroportin, producing juvenile or atypical presentations. Secondary iron overload can arise from repeated transfusion, chronic hemolysis, or ineffective erythropoiesis rather than a primary regulatory defect. Accumulated iron catalyzes the formation of reactive oxygen species, driving tissue injury that manifests as cirrhosis, cardiomyopathy, diabetes mellitus, arthropathy, hypogonadism, and skin pigmentation. Diagnosis rests on elevated serum transferrin saturation and ferritin, confirmed by genetic testing and, where needed, hepatic imaging or biopsy to quantify iron burden. Therapeutic phlebotomy remains the cornerstone of treatment, depleting iron stores and preventing progression, while iron-chelating agents are used when phlebotomy is contraindicated, as in transfusion-dependent anemias. Early detection substantially reduces organ damage.

Research published in this journal

5 peer-reviewed articles, ranked by relevance. Each links to its DOI.

This page summarises published research for orientation; it is not medical or professional advice.

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