{
  "abstract": "Hereditary haemochromatosis (HH) is a genetic disorder causing systemic iron overload due to impaired hepcidin regulation. While extensively studied in adults, paediatric HH remains under-recognised and under-reported. Most children are identified incidentally or through family screening. Traditionally, HH has been categorised into four main types (type 1- 4) based on the genetic mutation and protein involved (table 1). Type 1 also called classical or HFE related-HH results from homozygous mutation at a single locus in the Hepcidin Antimicrobial Peptide (HAMP) gene that leads to downregulation of hepcidin synthesis. 1 Type 2- 4 HH is caused by pathogenic mutations in one of four genes, HFE2 (encoding hemojuvelin, type 2A), HAMP (encoding hepcidin, type 2B), encoding transferrin receptor 2 (TFR2, type 3), and solute carrier family 40 member 1 (SLC40A1, type 4).1 2 The rarity of paediatric cases mean that management strategies are largely extrapolated from adult guidelines, which may not account for differences in growth, iron requirements, and disease penetrance in children.The aim of the study was to describe the genetic spectrum, clinical presentation, management, and outcomes of children with HH in a tertiary paediatric hepatology centre. A retrospective review was conducted of all children (≤16 years) diagnosed with genetically confirmed HH between 2007 and 2025. Demographic, clinical, biochemical, imaging data and outcomes were collected from electronic medical records. Patients were classified as HFE-related (Type 1) or non-HFE (Types 2–4) according to BIOIRON Society criteria. Descriptive statistical analysis compared disease characteristics between subgroups.Twelve children were identified (median age at diagnosis 11 years, range 3–15). HFE-related HH accounted for 75% (n=9), while 25% (n=3) had non-HFE mutations: HJV (n=1), HAMP (n=1), and SLC40A1 (n=1). Median ferritin at diagnosis was significantly higher in the non-HFE group (2311 µg/L) compared with HFE-HH (238 µg/L). Transferrin saturation levels were similar between groups (mean 56–60%). Three patients (25%) required treatment. Two children with non-HFE HH commenced oral chelation (deferasirox) for hepatic iron overload, and one adolescent with HFE-HH received chelation for symptomatic iron excess with arrhythmia. None developed cardiac, endocrine, or cutaneous complications during follow-up. Among untreated HFE-HH patients, ferritin levels remained stable (mean 207 µg/L), and no progression of liver disease occurred. The median age at final review was 14.6 years (range 5–18); all patients remain under surveillance or have transitioned to adult care.HFE-related HH typically follows a benign paediatric course, rarely requiring intervention before adulthood. In contrast, non-HFE (juvenile) forms present earlier with severe iron overload and warrant prompt initiation of iron-reducing therapy to prevent irreversible organ injury. Current paediatric management relies heavily on adult treatment protocols, which may risk overtreatment in growing children. A genotype-guided, risk-stratified approach incorporating serial biochemical monitoring, MRI iron quantification, and multidisciplinary follow-up is needed. Development of paediatric-specific management guidelines and structured transition pathways to adult hepatology services will be essential to optimise long-term outcomes in this rare but important condition.References Kowdley KV, Brown KE, Ahn J, Sundaram V. ACG clinical guideline: hereditary hemochromatosis. Am J Gastroenterol 2019;114:1202–1218.Girelli D, Busti F, Brissot P, Cabantchik ZI, Enculescu M, Kruszewski M, et al. Hemochromatosis classification: update and recommendations by the BIOIRON Society. Blood 2022;139:3018–3029.",
  "authors": [
    {
      "affiliations": [
        "Liver Unit (including small bowel transplantion), Birmingham Women’s and Children’s NHS Foundation Trust"
      ],
      "name": "Tarryn Saidel"
    },
    {
      "affiliations": [
        "Liver Unit (including small bowel transplantion), Birmingham Women’s and Children’s NHS Foundation Trust"
      ],
      "name": "Jane Hartley"
    },
    {
      "affiliations": [
        "Liver Unit (including small bowel transplantion), Birmingham Women’s and Children’s NHS Foundation Trust"
      ],
      "name": "Joseph Valamparampil"
    }
  ],
  "title": "OC37 Hereditary haemochromatosis in pediatrics",
  "uid": "723a983a-c25b-5ed8-890f-b320bc6f1879"
}