The Frequency of the Most Common Mutations in the Hereditary Hemochromatosis and Primary Iron Overload Genes in Different Ethnic Groups in New York State

Brianne Gustafson

Abstract:

Four different ethnic groups (African Americans, Caucasians, Hispanics, and Asians) in the New York State population were analyzed using Restriction Fragment Length Polymorphism analysis to determine the frequencies of the most common mutations in the Hereditary Hemochromatosis (HFE) and Primary Iron Overload (ferroportin-1) genes.  The most common mutations previously reported in the HFE gene (C282Y and H63D) were found to be more prevalent in the NYS Caucasian Hemochromatosis population.  Analysis of the most common mutation (Q248H) associated with Primary Iron Overload in the African American population showed a higher prevalence in the NYS African American population.  These results were confirmed by previous studies.