The Allele Frequency of the HFE gene mutation H63D (rs1799945) and Its Relationship to a Hereditary Hemochromatosis Diagnosis in Metabolic Nutrition Students at Virginia Tech

Abstract

Hereditary hemochromatosis (HH) is a disease that causes excess iron absorption from the diet. This excess iron can be stored in the liver, skin, heart, pancreas, and joints, and then can lead to other health conditions, as the human body has no way of actively excreting iron. The human hemochromatosis protein (HFE protein) is encoded by the HFE gene, and mutations in this gene can lead to a dysfunction of the protein resulting in HH or iron overload later in adulthood. The objective of this study was to analyze the mutant allele frequency and the penetrance of the H63D mutation (SNP rs1799945) of the HFE gene in a cohort of Virginia Tech students. This study had a total of 69 participants. Fifty-two participants provided saliva samples, genomic data from 23andMe®, and surveys with phenotypic information. Of these, 6 were genotyped using the RFLP technique and served as controls for genotype confirmation. An additional 17 participants provided saliva samples, but did not provide 23andMe® data; genomic DNA from these participants were genotyped using the RFLP technique. Our results showed that although none of the participants had been diagnosed with HH, the mutant allele frequency of this population was 13.04%. In conclusion, as HH is usually diagnosed in older adults, we could not identify any students with a phenotype of HH, even though we could detect the mutant allele. This data suggests that affordable and accessible genetic ancestry and health kits such as the 23andMe® kit, could provide an efficient way to identify, prevent, and manage HH and other genetic diseases before symptoms arise. KEYWORDS: Hereditary Hemochromatosis; Iron Absorption; Single Nucleotide Polymorphism; Restriction Fragment Length Polymorphism; College Student Population; 23andMe®; Population Analysis; Survey Results