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TFR2-related hemochromatosis

ORPHA:225123· ICD-10 E83.1

Definition

A form of rare hemochromatosis (HC) characterized by excessive tissue iron deposition of genetic origin and presenting with liver disease, hypogonadism, arthritis, diabetes and skin pigmentation.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal recessive
Age of onset
Adolescent, Adult