{
  "abstract": "Introduction The gold standard for management of haemochromatosis remains venesection which is resource intensive. Venesection schedule should be patient-specific and within guidelines in terms of genetics and phenotype. Lost to follow- up (LTFU) rates should be recorded.Methods Patients were identified from venesection lists in a medium sized district general hospital. Data, including symptoms, demographics, biomarkers including serum ferritin, and patient engagement were collected from electronic patient records.Results Of 146 patients, we were able to identify diagnostic genetics of 138. 69% were male. 89% were homozygous for C282Y with 11%) heterozygotes for C282Y and H63D. No H63D homozygous patients were identified. 3 patients (2%) of patients died, one due to complications of liver disease (HCC).Most common symptoms prior to diagnosis were fatigue and myalgia. Other significant symptoms included weight loss, impotence and joint pain. 18% of patients were asymptomatic, diagnosed on routine bloods.Mean age at diagnosis was 52, with a range of 18 to 84 years. The median induction ferritin was 162 (IQR 62–124). The median maintenance ferritin was 148 (IQR 115–203).13% patients were blood donors through NHS Blood and Transplant. 13% of patients had MASLD. 5% of patients had cirrhosis on ultrasound elastography. 1 was diagnosed with haemochromatosis after stopping regular blood donations. 2% of patients disengaged from treatment and 2% were LTFU due to the Covid-19 pandemic. The remaining 120 patients were engaging with regular venesection.34% patients had no available liver ultrasound.2 patients had alpha-1 antitrypsin (1 patient MZ and 1 ZZ phenotype).Discussion Adoption of electronic patient records has improved documentation of genetic data for patients with haemochromoatosis. Alcohol history was not always detailed. Barriers to monitoring and follow-up include private venesection, relocation and the COVID-19 pandemic. Only a minority of patients donated blood to NHSBT despite this being subjectively popular with patients. Some heterozygotes are still being venesected and under current guidelines this may cease. Liver imaging was often not done routinely at the time of diagnosis. The rate of HCC remains low.Summary Venesection for haemochromatosis is safe, and outcomes are good. Guidelines remain heterogenous and are often not followed. Around 5% of patients were LTFU. More concordance between, and adherence to, guidelines is needed. Local data is being used to develop a haemochromatosis-specific quality-of-life questionnaire to improve patient care.",
  "authors": [
    {
      "affiliations": [
        "Hampshire Hospitals Foundation Trust, Basingstoke and North Hampshire Hospital, Basingstoke, UK"
      ],
      "name": "Phoebe Creswell"
    },
    {
      "affiliations": [
        "Hampshire Hospitals Foundation Trust, Basingstoke and North Hampshire Hospital, Basingstoke, UK"
      ],
      "name": "Benjamin White"
    },
    {
      "affiliations": [
        "Hampshire Hospitals Foundation Trust, Basingstoke and North Hampshire Hospital, Basingstoke, UK"
      ],
      "name": "John K Ramage"
    },
    {
      "affiliations": [
        "Hampshire Hospitals Foundation Trust, Basingstoke and North Hampshire Hospital, Basingstoke, UK"
      ],
      "name": "Corine Brooks"
    },
    {
      "affiliations": [
        "Hampshire Hospitals Foundation Trust, Basingstoke and North Hampshire Hospital, Basingstoke, UK"
      ],
      "name": "Kamran Ala"
    },
    {
      "affiliations": [
        "Hampshire Hospitals Foundation Trust, Basingstoke and North Hampshire Hospital, Basingstoke, UK"
      ],
      "name": "Charlotte Stocker"
    }
  ],
  "title": "P25 Real-world venesection data on 146 haemochromatosis patients in a district hospital- are we utilising resources correctly?",
  "uid": "138d5916-af6c-5da8-a787-148028b0c625"
}