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Ankyra Medical Journal

Ankyra Medical Journal (AnkMJ), formerly known as the Journal of Translational and Practical Medicine, regularly publishes international quality issues in the field of Medicine in the light of current information.

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The critical role of early genetic diagnosis and phlebotomy treatment in preventing organ damage in hemochromatosis: modern diagnostic and therapeutic approaches
Abstract
Hemochromatosis, caused by the C282Y mutation in the HFE gene, is the most common inherited disorder of iron metabolism. Since there is no active iron excretion mechanism in the body, iron progressively accumulates in the liver, heart, pancreas and endocrine organs due to disorders in the hepcidin-ferroportin axis. The disease usually begins to show symptoms during the fifth decade of life, with the most common complaint being severe fatigue. If left untreated, hemochromatosis increases the risk of cirrhosis and hepatocellular carcinoma by around 20-fold. Transferrin saturation is considered together with ferritin elevation in diagnosis. Genetic testing targeting the HFE gene confirms the diagnosis and prevents unnecessary invasive interventions. In terms of measuring iron load in the liver, magnetic resonance imaging is the gold standard for non-invasive assessment. Therapeutic phlebotomy is still the cornerstone of treatment. Iron chelation therapy is the second option in cases where phlebotomy is contraindicated. Early diagnosis and treatment can prevent organ damage; however, late complications such as cirrhosis, hypogonadism, and arthropathy may be permanent. Hepcidin analogs and CRISPR technology are seen as promising treatment options in the future. With modern approaches, it is possible to detect the disease at an early stage and treat it effectively.

Keywords : Hereditary hemochromatosis, HFE gene mutation, phlebotomy, early diagnosis

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Article available in :
Volume 4, Issue 3, 2025
Page : 51-57
https://doi.org/10.51271/ANKMJ-0047
Article Information
Received : 01 Tem 2025
Accepted : 14 Tem 2025
Published : 29 Tem 2025
Corresponding Author :

Eylem Karatay: Deparment of Gastroenterology, Faculty of Medicine, İstinye University, İstanbul, Turkiye

[email protected]
Citation : Karatay E. The critical role of early genetic diagnosis and phlebotomy treatment in preventing organ damage in hemochromatosis: modern diagnostic and therapeutic approaches. Ank Med J. 2025;4(3):51-57.

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