Transferrin Saturation and Screening of Genetic Hemochromatosis (Letters) (Letter to the Editor‪)‬

To the Editor: Genetic hemochromatosis is the most frequent inherited disease in Caucasian populations. The gene located on the short arm of chromosome 6 was cloned in 1996 [1] and unfortunately named HLA-H. It encodes a protein that is very similar to HLA class I proteins. Two mutations have been described, but the missense mutation (C 282 Y) is observed in 90% of homozygous patients [2]. The fact that the percentage of mutations is variable from one population to another implies the existence of other genes, and makes a genotypic screening impossible.