" /> Hemochromatosis, type 4 - CISMeF





Preferred Label : Hemochromatosis, type 4;

Symbol : HFE4;

CISMeF acronym : HFE4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hemochromatosis, autosomal dominant; Hemochromatosis due to defect in ferroportin;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the solute carrier family 40 (iron-regulated transporter), member 1 gene (SLC40A1, 604653.0001);

Laboratory abnormalities : Increased serum ferritin; Increased transferrin saturation;

Prefixed ID : #606069;

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29/07/2025


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