From the Guidelines
Hemochromatosis type 1 should be managed with regular phlebotomy to reduce iron levels, with treatment targets of ferritin <50 µg/L during the induction phase and <100 µg/L during the maintenance phase, as recommended by the most recent guidelines 1.
Diagnosis and Pathogenesis
Hemochromatosis type 1 is a genetic disorder characterized by excessive iron absorption and accumulation in the body's tissues and organs, caused by mutations in the HFE gene, most commonly C282Y and H63D mutations, which lead to increased intestinal iron absorption 1. The pathogenesis of haemochromatosis is due to a deficiency or impairment in hepcidin synthesis or function, leading to increased intestinal iron absorption and iron release from macrophages, resulting in an expanded circulating iron pool, reflected by increased transferrin saturation 1.
Treatment and Management
Treatment primarily involves regular phlebotomy (blood removal) to reduce iron levels, with initial therapeutic phlebotomy performed weekly, removing approximately 500 mL of blood until serum ferritin levels reach 50-100 ng/mL and transferrin saturation is below 50% 1. Maintenance phlebotomy is then continued every 2-4 months based on ferritin levels. Patients should avoid iron supplements, vitamin C supplements with meals (which enhance iron absorption), and limit alcohol consumption which can worsen liver damage. Dietary modifications alone are insufficient treatment but reducing red meat and iron-fortified foods may help. Regular monitoring of iron studies (ferritin, transferrin saturation) is essential.
Complications and Prevention
Early treatment prevents complications including cirrhosis, diabetes, heart problems, and arthritis. For patients who cannot tolerate phlebotomy, iron chelation therapy with medications like deferasirox may be considered, though this is less common. Family screening is recommended as the condition is autosomal recessive and siblings or children may be affected. The stage of liver fibrosis and other end-organ damage should be carefully assessed at diagnosis because they determine disease management, and patients with advanced fibrosis should be included in a screening programme for hepatocellular carcinoma 1.
- Key points to consider in the management of Hemochromatosis type 1 include:
- Regular phlebotomy to reduce iron levels
- Avoidance of iron supplements and vitamin C supplements with meals
- Limitation of alcohol consumption
- Regular monitoring of iron studies
- Family screening for the condition
- Assessment of liver fibrosis and other end-organ damage at diagnosis.
From the Research
Hemochromatosis Type 1 Overview
- Hemochromatosis is a genetic disorder characterized by excessive iron accumulation in the body, leading to organ damage and various health issues 2.
- The most common form of hemochromatosis is caused by mutations in the HFE gene, specifically the C282Y mutation 2.
- Hemochromatosis type 1 is typically diagnosed in adulthood, with men often being diagnosed earlier than women due to menstrual blood loss in women 3.
Diagnosis and Treatment
- Diagnosis of hemochromatosis involves clinical examination, assessment of plasma iron parameters, imaging, and genetic testing 2.
- The main treatment for hemochromatosis is phlebotomy, which involves regular blood draws to remove excess iron from the body 4, 2.
- Phlebotomy can help improve heart function, reduce abnormal skin pigmentation, and lessen the risk of liver complications 3.
- Iron chelation therapy may be used in some cases, and hepcidin supplementation is being explored as a potential future treatment 2.
Monitoring and Maintenance
- Monitoring of hemoglobin levels and serum ferritin is essential to prevent iron deficiency during phlebotomy therapy 5.
- Mean corpuscular volume (MCV) can be used as a guide to the pace of phlebotomy therapy, with a target MCV of 5-10% below pre-phlebotomy values 4.
- Maintenance phlebotomy is typically required to prevent iron reaccumulation, with the frequency of phlebotomies depending on individual patient needs 4.