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Hereditary hemochromatosis

Hereditary hemochromatosis is a genetic iron overload disorder characterized by excessive intestinal iron absorption leading to iron deposition in organs, particularly the liver, heart, and pancreas

Prevalence

1 / 300

N/A

US Estimated

1 in 200–300

Europe Estimated

Age of Onset

Adult

ICD-10

E83.110

Inheritance Pattern

Autosomal dominant

Autosomal recessive

Mitochondrial/Multigenic

X-linked dominant

X-linked recessive

5 Facts you should know

FACT

Hereditary hemochromatosis is a common genetic iron overload disorder, most often caused by mutations in the HFE gene (particularly C282Y), leading to increased intestinal iron absorption

FACT

Progressive iron accumulation results in organ damage, especially in the liver, heart, pancreas, joints, and endocrine glands

FACT

Clinical features may include fatigue, arthralgia, skin hyperpigmentation (“bronze diabetes”), cirrhosis, cardiomyopathy, and diabetes mellitus, often presenting in adulthood

FACT

Diagnosis is based on elevated transferrin saturation and serum ferritin, followed by confirmatory genetic testing for HFE mutations

FACT

Treatment consists of regular therapeutic phlebotomy, which effectively reduces iron levels and can prevent or reverse complications if started early

Interest over time

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