Hemochromatosis

A genetic or acquired disease characterized by excessive iron accumulation that causes organ damage.

Written by: Saygı Hospital Health Guide Editorial Board

Last updated: June 11, 2026

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Dahiliye (İç Hastalıkları) department. Book Appointment →

What is Hemochromatosis?

Hemochromatosis is a disease in which the intestine absorbs more iron than necessary, causing iron to accumulate in various organs and produce progressive organ injury. The hereditary form is most common; mutation of the C282Y allele of the HFE gene is the principal cause.

Iron overload first targets the liver, followed by the pancreas, heart, joints and pituitary. Hepatic fibrosis, diabetes, cardiomyopathy, arthropathy and hypogonadism may develop. Men are affected earlier and more severely than women, since menstruation provides relative protection.

Early diagnosis and regular phlebotomy can prevent organ damage. Transferrin saturation and serum ferritin are used as screening tests.

Symptoms

Chronic fatigue and weakness

Joint pain (especially the second and third MCP joints)

Abdominal pain and hepatomegaly

Bronze skin pigmentation (bronze diabetes)

Loss of libido and erectile dysfunction

Palpitations and shortness of breath

Risk Factors

Northern European ancestry

Family history of hemochromatosis

HFE gene mutation carrier status

Male sex

Chronic liver disease

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

Unexplained fatigue and joint pain
Elevated ferritin and transferrin saturation
Family history of hemochromatosis
Elevated liver enzymes

Treatment Methods

Therapeutic phlebotomy (regular blood removal — cornerstone of treatment)

Target ferritin level 50-100 ug/L

Iron chelation therapy (when phlebotomy is not feasible)

Avoidance of alcohol and vitamin C supplements

Surveillance of organ damage (liver, heart, pancreas)

Which Department to Visit?

You can visit our Dahiliye (İç Hastalıkları) department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.