" /> Hemochromatosis, type 3 - CISMeF





Preferred Label : Hemochromatosis, type 3;

Symbol : HFE3;

CISMeF acronym : HFE3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hemochromatosis due to defect in transferrin receptor 2;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the transferrin receptor 2 gene (TFR2, 604720.0001);

Laboratory abnormalities : Increased transferrin saturation; Increased serum ferritin; Increased liver transaminases; Increased serum iron;

Prefixed ID : #604250;

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27/07/2025


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