Category: hereditary hemochromatosis
Tier 1 Guidelines on Family-Based Screening for Hereditary Hemochromatosis
An important function in public health genomics is to identify evidence-based genomic applications that can save lives and prevent disease. In maintaining the PHGKB Tier Coded Guidelines database, we routinely look for Tier 1 applications of genomic testing strategies that have evidence-based guidance supporting implementation in specific clinical scenarios. We only consider recommendations that have Read More >Posted on by Leave a comment
Are We Ready for Population Screening for Hereditary Hemochromatosis?
Hereditary Hemochromatosis (HH) is an inherited iron storage disorder in which the body builds up too much iron, damaging tissues and organs. In most people, HH is caused by two copies of a specific change (mutation) in the HFE gene which is most commonly found in people of European ancestry. In the United States, over Read More >Posted on by 1 Comment
A New Public Health Assessment of the Disease Burden of Hereditary Hemochromatosis: How Clinically Actionable is C282Y Homozygosity?
This blog post is based on a recent paper by Grosse, Gurrin, Bertalli, and Allen in Genetics in Medicine. Hereditary hemochromatosis (HH) attributable to mutations in the HFE gene is the most common autosomal recessive disorder among adults of northern European origin. It occurs in 1 in 300 non-Hispanic whites in the United States. Approximately Read More >Posted on by Leave a comment