[Download] "Transferrin Saturation and Screening of Genetic Hemochromatosis (Letters) (Letter to the Editor)" by Clinical Chemistry " eBook PDF Kindle ePub Free
eBook details
- Title: Transferrin Saturation and Screening of Genetic Hemochromatosis (Letters) (Letter to the Editor)
- Author : Clinical Chemistry
- Release Date : January 01, 1998
- Genre: Chemistry,Books,Science & Nature,
- Pages : * pages
- Size : 169 KB
Description
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.