[Comparison between phlebotomy and erythrocytapheresis of iron overload in patients with HFE gene mutations].

Background And Objective: Large-volume erythrocytapheresis (EA) is an useful and speedy method to treat iron overload (IO). We assesed the efficacy of EA in patients with HFE gene mutations and IO compared to the classical phlebotomies.

Patients And Method: Data from 9 patients with IO treated with EA, using a discontinuous flow cell separator as a single needle procedure, for a period of 2 years, were compared to 9 matched patients who underwent conventional phlebotomies.

[Hyperferritinemia-cataract syndrome associated to the HFE gene mutation. Two new Spanish families and a new mutation (A37T: "Zaragoza")].

Background And Objective: Nuclear congenital cataracts associated with hyperferritinemia--hereditary hyperferritinemia cataract syndrome (HHCS)--without clinical or biochemical signs of iron overload have been recently described in several Spanish families. This HHCS is associated with mutations in the gene of ferritin subunit L, located in chromosome 19. We describe 2 new families with HHCS, one of them presenting a new L-ferritin mutation (A37T: -Zaragoza-).