The ferroportin disease
A Pietrangelo - Blood Cells, Molecules, and Diseases, 2004 - Elsevier
A new inherited disorder of iron metabolism, hereafter called “the ferroportin disease,” is
increasingly recognized worldwide. The disorder is due to pathogenic mutations in the
SLC40A1 gene encoding for a main iron export protein in mammals, ferroportin1/IREG1/
MTP1, and it was originally identified as an autosomal-dominant form of iron overload not
linked to the hemochromatosis (HFE) gene. It has distinctive clinical features such as early
increase in serum ferritin in spite of low-normal transferrin saturation, progressive iron …
increasingly recognized worldwide. The disorder is due to pathogenic mutations in the
SLC40A1 gene encoding for a main iron export protein in mammals, ferroportin1/IREG1/
MTP1, and it was originally identified as an autosomal-dominant form of iron overload not
linked to the hemochromatosis (HFE) gene. It has distinctive clinical features such as early
increase in serum ferritin in spite of low-normal transferrin saturation, progressive iron …