NEW YORK (Reuters Health) - Most individuals with the C282Y polymorphism of the hereditary hemochromatosis gene (HFE) will have only modest increases in transferrin saturation and ferritin levels over the years and only rarely will develop clinically overt hemochromatosis, according to a Danish study.
Therefore, C282Y homozygotes need only be screened for manifestations of hemochromatosis every 10 to 20 years at most, Dr. Borge Gronne Nordestgaard from Herlev University Hospital and colleagues say.
The progression rate of iron overload in hereditary hemochromatosis in the general population is unknown, the authors note in the April 15th issue of the journal Blood.
To investigate, the Danish team genotyped 9174 individuals participating in The Copenhagen City Heart Study and determined increases over 25 years in transferrin saturation and ferritin levels in the 23 C282Y homozygotes identified as well as in matched control subjects with other HFE genotypes.
They report that transferrin saturation and ferritin levels increased only modestly with increasing age in C282Y homozygotes and none of the C282Y homozygotes developed clinically overt hemochromatosis during follow-up.
Specifically, they report that transferrin saturation rose from 50% to 70% from 25 to 85 years of age and from 70% to 80% from 35 to 80 years of age in female and male C282Y homozygotes, respectively.
Ferritin levels increased from 100 to 500 micrograms per liter and fell from 800 to 400 micrograms per liter in female and male C282Y homozygotes for the same age spans.
“Pathophysiologically,” they write, “our data are compatible with the idea that most C282Y homozygotes in the population at large will develop biochemical iron overload early in adult life. Thereafter, the rate of increase in ferritin levels and probably in accumulation of iron is not larger in C282Y homozygotes than in individuals without C282Y homozygosity.”
These findings match previous cross sectional studies, the team notes.
Source: Blood 2004;103:2914-2919. [ Google search on this article ]
MeSH Headings:Pathologic Processes: Pathological Conditions, Signs and Symptoms: Disease Progression: Disease Attributes: DiseasesCopyright © 2002 Reuters Limited. All rights reserved. Republication or redistribution of Reuters content, including by framing or similar means, is expressly prohibited without the prior written consent of Reuters. Reuters shall not be liable for any errors or delays in the content, or for any actions taken in reliance thereon. Reuters and the Reuters sphere logo are registered trademarks and trademarks of the Reuters group of companies around the world.
