Ferroportin-associated iron overload (also known as the ferroportin disease) was clinically recognised in 1999,¹ and linked in 2001 to the A77D mutation of ferroportin (FPN).² Owing to the mild clinical expressivity reported in the literature, doubts have been raised on the penetrance of the genetic defect and the rationale for iron-removal therapy.³ However, so far, no prospective data have been collected pertaining to this disorder.

We have had the opportunity to study six members of a pedigree carrying the A77D mutation of FPN for 11–24 years in whom the disease was first described.^1,2

The proband (subject V₁₃, table 1) was diagnosed at the age 59 years. After being on weekly phlebotomy for 2 years, he was on a maintenance programme for 18 years (one phlebotomy every 3 months). At the age of 79 years, he refused to continue on phlebotomy. In 2006, at the …