title: HFE-associated hereditary hemochromatosis: overview of genetics and clinical implications for nurse practitioners in primary care settings.
abstract: OBJECTIVE
  HFE-hemochromatosis is one of the most common genetic disorders in the United States among Caucasians of Northern European ancestry. The purpose of this article is to discuss HFE-associated hereditary hemochromatosis (HH), including the genetics, pathophysiology, phenotype and genotype, diagnostics, and management utilizing a case-based format as an exemplar.
  
  
  METHODS
  Online genetic resources; professional guidelines; review; and scientific articles.
  
  
  CONCLUSIONS
  HFE-HH is an autosomal recessive disorder and two major genes C282Y and H63D are associated with HH (iron overload) susceptibility particularly C282Y/C282Y mutations. It has a variable penetrance and expression. Individuals who develop iron overload may develop broad symptoms, including joint discomfort, fatigue, decreased libido, and abdominal pain; and if left untreated, HFE-HH has the potential of developing end-organ disease including liver fibrosis, cirrhosis, and cancer; cardiac arrhythmias or heart failure; and diabetes. Suspicion of the disorder begins with personal and family history, transferrin saturation, and ferritin levels, and if high, genotyping to confirm the disorder. Management consists of correcting iron overload to prevent/delay end-organ damage often consisting of intermittent phlebotomy.
  
  
  CONCLUSIONS
  Knowledge of HFE-HH is essential so that nurse practitioners can identify individuals at risk and to provide appropriate management of care and referral.
authors.affiliation: College of Graduate Nursing, Western University of Health Sciences, Pomona, California.
authors.forename: Donna
authors.initials: D
authors.lastname: Emanuele
authors.forename: Ivy
authors.initials: I
authors.lastname: Tuason
authors.forename: Quannetta T
authors.initials: QT
authors.lastname: Edwards
mesh_terms: D006432:Hemochromatosis / Q000151:congenital* / Q000235:genetics / Q000451:nursing / Q000473:pathology; D006801:Humans; D009154:Mutation; D009722:Nurse Practitioners; D010375:Pedigree; D011320:Primary Health Care / Q000379:methods*
keywords: Genetics; digestive system; liver; nurse practitioners; primary care