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Hereditary Hemochromatosis

A genetic metabolism disease causing excessive iron accumulation in the body.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

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

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What is Hereditary Hemochromatosis?

Hereditary hemochromatosis is an autosomal recessive metabolic disease that leads to organ damage due to accumulation of excess iron in the liver, heart, pancreas, joints and pituitary gland as a result of insufficient hepcidin production that regulates iron absorption in the small intestine. It is one of the most common genetic diseases in individuals of Northern European origin.

HFE gene mutations (most commonly C282Y homozygote) are responsible for the majority of cases. Symptoms typically emerge in men at 40-50 years and in women after menopause (menstruation has a protective effect). Liver fibrosis, cirrhosis and increased risk of hepatocellular carcinoma are among the most serious complications.

Elevated serum transferrin saturation and ferritin levels suggest the diagnosis; it is confirmed by HFE genetic testing. Liver biopsy can be used to determine iron load and degree of fibrosis.

Symptoms

Fatigue and weakness
Joint pain (especially in 2nd and 3rd metacarpophalangeal joints)
Bronze or gray-brown skin color change
Abdominal pain and liver enlargement
Diabetes symptoms (pancreatic damage)
Heart rhythm disorders or heart failure
Sexual dysfunction and hypogonadism in men

Risk Factors

Northern European ancestry
Carrying C282Y/C282Y homozygote HFE mutation
Individuals with family history of hemochromatosis
Male sex and postmenopausal women
Chronic alcohol use (accelerates iron accumulation)

When to See a Doctor?

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

  • If there is family history of hemochromatosis (for screening)
  • If there are unexplained elevated liver enzymes and fatigue
  • If elevated iron parameters (ferritin, transferrin saturation) are detected
  • If diabetes, heart rhythm disorder or joint pain occur together

Treatment Methods

01
Therapeutic phlebotomy (blood removal): 450-500 mL every 4-8 weeks until ferritin <50 ng/mL is achieved
02
Maintenance phlebotomy: every 3-4 months after target ferritin level is reached
03
Chelation therapy (deferasirox, deferoxamine): in cases not compliant with phlebotomy
04
Avoid iron supplementation in diet and excessive consumption of vitamin C-rich foods
05
Cessation of alcohol use
06
Screening of family members for HFE mutation

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.