title: Hereditary hemochromatosis: patient experiences of the disease and phlebotomy treatment.
abstract: BACKGROUND
  Hereditary hemochromatosis (HH) is a genetic disorder resulting in increased accumulation of dietary iron. It is associated with various clinical complications such as liver cirrhosis and diabetes. The aim of this study was to explore patients' experiences of living with HH, the diagnosis process, and phlebotomy treatment.
  
  
  METHODS
  An online survey was developed and completed by a total of 210 HH patients across the United States (n = 70), France (n = 50), Ireland (n = 40), and the United Kingdom (n = 50).
  
  
  RESULTS
  Of the 210 patients, 30% were induction patients, 49% were maintenance patients, and 22% had never received phlebotomy. The most common route to diagnosis was by chance (42%), although most patients (87%) reported experiencing symptoms they now associated with HH at the time of diagnosis. Fatigue (60%) and joint pain (50%) were the most frequently reported current symptoms. While 87% of patients felt that treatment with phlebotomy was "quite worthwhile" or "very worthwhile," 52% of induction patients and 37% of maintenance patients experienced side effects "always" or "most of the time" after phlebotomy and 16% of patients would "definitely" or "probably" decide not to receive phlebotomy if alternative options were available.
  
  
  CONCLUSIONS
  Diagnosis of HH is likely made late in many patients and subsequent phlebotomy treatment, while considered worthwhile by most, leads to concerns over side effects and inconvenience, often impacting patients' lives. Greater efforts to promote awareness of the disease and reduce the treatment burden associated with phlebotomy are required to improve detection and management of this disease.
authors.affiliation: Service des Maladies du Foie, Inserm U-991, and the Centre de Référence des Surcharges en Fer Rares d'Origine Génétique, Hôpital Pontchaillou, Rennes, France.
authors.forename: Pierre
authors.initials: P
authors.lastname: Brissot
authors.forename: Simon
authors.initials: S
authors.lastname: Ball
authors.forename: Diana
authors.initials: D
authors.lastname: Rofail
authors.forename: Helena
authors.initials: H
authors.lastname: Cannon
authors.forename: Vivian Wu
authors.initials: VW
authors.lastname: Jin
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D006432:Hemochromatosis / Q000473:pathology* / Q000503:physiopathology / Q000628:therapy*; D006801:Humans; D008297:Male; D008875:Middle Aged; D018962:Phlebotomy / Q000009:adverse effects*