From the Guidelines
Hereditary Hemochromatosis (HH) management should focus on reducing excess iron through regular phlebotomy, with a target serum ferritin level of 50-100 μg/L during the maintenance phase, as recommended by the most recent guidelines 1. The management of HH involves an induction phase where phlebotomy is performed weekly or fortnightly until iron stores are depleted, with a target serum ferritin of 50 μg/L, and a maintenance phase where serum ferritin is maintained between 50-100 μg/L 1. Some key points to consider in HH management include:
- Phlebotomy volume and frequency: 400-500 ml weekly or every 2 weeks during the induction phase, and every 1-4 months during the maintenance phase, depending on the patient's iron status 1.
- Monitoring: serum ferritin, transferrin saturation, and complete blood count should be monitored regularly, with serum ferritin measured every month during the induction phase and every 6 months during the maintenance phase 1.
- Dietary recommendations: a low-iron diet is generally unnecessary with regular phlebotomy, but patients should avoid iron supplements, vitamin C supplements with meals, and excessive alcohol consumption 1.
- Screening for complications: patients with advanced disease require screening for complications including liver fibrosis/cirrhosis, diabetes, cardiomyopathy, and hypogonadism 1.
- Chelation therapy: reserved for patients who cannot tolerate phlebotomy, with deferasirox or deferoxamine as treatment options 1. It is essential to prioritize the most recent and highest-quality study, which in this case is the 2022 EASL clinical practice guidelines on haemochromatosis 1, to ensure that patients receive the most up-to-date and effective treatment for HH.
From the Research
Guidelines for Hereditary Hemochromatosis (HH) Management
The primary goal of therapy for Hereditary Hemochromatosis (HH) is iron depletion to normalize body iron stores and prevent or decrease organ dysfunction 2. The guidelines for HH management include:
- Phlebotomy as the primary therapy to normalize iron stores 2, 3
- Monitoring of phlebotomy therapy to achieve iron depletion 2
- Maintenance therapy to prevent iron accumulation 2
- Dietary and pharmacologic maneuvers to reduce iron absorption 2
- Voluntary blood donation as a potential option for patients with HH 4
Treatment Options
Other treatment options for HH include:
- Deferasirox, an oral iron chelator, as an alternative to phlebotomy 5
- Erythrocytapheresis, a more individualized treatment, as a balance between effectiveness, tolerability, and costs 6
- Oral chelators and proton pump inhibitors, used in selected patients, to further individualize treatment 6
- Hepcidin-targeted therapy, a potential future approach to treatment 6
Safety Concerns
There are no convincing evidence to exclude patients with HH from serving as blood donors, and blood from HH patients is safe and should be allowed into the donor pool 4. However, there are concerns about the infectious risk of blood products from HH patients, particularly from siderophilic organisms such as Yersinia enterocolitica 4.