H63D Syndrome (all 3 types), is considered a very rare disorder that is difficult to recognize due to its multifaceted nature. Even with homozygous mutation of the HFE gene H63D and the simultaneous p
Evidence-based medicine has shown for many years that homozygous mutations of the HFE gene H63D are by no means negligible. Not only can it cause, usually after a second hit, rather mild classical hem
Aceruloplasminemia is a rare autosomal recessive inherited disorder. Mutations in the ceruloplasmin gene cause depressed ferroxidase activity leading to iron accumulation. The clinical phenotype is hi