ACG Clinical Guideline: Hereditary Hemochromatosis.
The American journal of gastroenterology
Biomarkers; Chelating Agents; Ferritins; Genetic Testing; Genotype; Hemochromatosis; Humans; Phenotype; Phlebotomy
Hereditary hemochromatosis (HH) is one of the most common genetic disorders among persons of northern European descent. There have been recent advances in the diagnosis, management, and treatment of HH. The availability of molecular diagnostic testing for HH has made possible confirmation of the diagnosis for most patients. Several genotype-phenotype correlation studies have clarified the differences in clinical features between patients with the C282Y homozygous genotypes and other HFE mutation patterns. The increasing use of noninvasive tests such as MRI T2* has made quantification of hepatic iron deposition easier and eliminated the need for liver biopsy in most patients. Serum ferritin of
Kowdley, Kris V; Brown, Kyle E; Ahn, Joseph; and Sundaram, Vinay, "ACG Clinical Guideline: Hereditary Hemochromatosis." (2019). Articles, Abstracts, and Reports. 3004.