Ferroportin disease is an inherited disorder of iron metabolism and is caused by 
mutations in the ferroportin gene (SLC40A1). We present a patient with 
hyperferritinemia, iron overload in the liver with reticuloendothelial 
distribution and also in the spleen, and under treatment with erythropheresis. A 
molecular study of the genes involved in iron metabolism (HFE, HJV, HAMP, TFR2, 
SLC40A1) was undertaken. In vitro functional studies of the novel mutation found 
in the SLC40A1 gene was performed. The patient was heterozygous for a novel 
mutation, c.386T>C (p.L129P) in the SLC40A1 gene; some of his relatives were 
also heterozygous for this mutation. In vitro functional studies of the L129P 
mutation on ferroportin showed it impairs its capacity to export iron from cells 
but does not alter its sensitivity to hepcidin. These findings and the iron 
overload phenotype of the patient suggest that the novel mutation c.386T>C 
(p.L129P) in the SLC40A1 gene has incomplete penetrance and causes the classical 
form of ferroportin disease.