Category: hereditary hemochromatosis

Tier 1 Guidelines on Family-Based Screening for Hereditary Hemochromatosis

Tier 1 Guidelines for Hereditary Hemochromatosis with a photo of a family with adult children

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 W. David Dotson, Katherine Kolor, Muin J. Khoury, Office of Genomics and Precision Public Health, Office of Science; and Scott D. Grosse, National Center on Birth Defects and Developmental Disabilities
Categories family history, genomics
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Are We Ready for Population Screening for Hereditary Hemochromatosis?

doctor visiting an elderly white man laying in a hospital man with

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 Scott D. Grosse, National Center on Birth Defects and Developmental Disabilities and Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, Georgia1 Comment
Categories genomics, Population screening
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A New Public Health Assessment of the Disease Burden of Hereditary Hemochromatosis: How Clinically Actionable is C282Y Homozygosity?

blood cells

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 Scott D. Grosse, Guest blogger, National Center on Birth Defects and Developmental Disabilities and Muin J. Khoury, Office of Public Health Genomics, Centers for Disease Control and Prevention
Categories genomics
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