Clinical Features of Hereditary Hemochromatosis Associated with Mutations in SLC40A1 (Type 4 or Ferroportin Associated Hereditary Hemochromatosis)

Hemochromatosis Type 4 is a rare condition associated with mutations in the SLC40A1 gene.

Chromosome: 2q32.2

Gene: SLC40A1

Protein: ferroportin

Inheritance: autosomal dominant

Onset: late adult

There are 2 major types of mutations: Type A and Type B.

Subtype	Mutated Ferroportin	Iron Transport	Clinical
A	not at cell surface	unable to be exported so accumulates within macrophages	low or normal transferrin saturation, absence of iron overload in end-organs
B	at cell surface	hepcidin resistant iron transport	high transferrin saturation, iron overload

In Type B the patient shows signs and symptoms of hereditary hemochromatosis while Type A does not.

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