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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 …