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.



Mutated Ferroportin

Iron Transport



not at cell surface

unable to be exported so accumulates within macrophages

low or normal transferrin saturation, absence of iron overload in end-organs


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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