First-Line Treatment of Hereditary Hemochromatosis
Clinical Scenario
Hereditary hemochromatosis (HH) is a genetic disorder of iron metabolism that results in progressive excess iron accumulation. Patients confirmed by genotyping require a structured iron depletion protocol to prevent organ damage from iron overload.
Treatment Approach
First-line management centres on a phlebotomy-based iron removal strategy. An alternative, selective red-cell removal technique is also available for patients who require a different approach. Treatment proceeds in two phases — the full protocol specifies the induction and maintenance details; access it below.
Primary Treatment Goal
Success is defined by achieving a specific serum ferritin target range, monitored monthly throughout the induction phase, followed by periodic maintenance sessions to sustain that level.
References
DOI: 10.14309/ajg.0000000000000315
- We recommend that phlebotomy be used as the first-line treatment in patients diagnosed with HH, as determined by C282Y homozygosity or C282Y/H63D compound heterozygosity (strong recommendation, moderate quality of evidence).
- An alternative to phlebotomy is erythrocytapheresis, a technique that selectively removes RBCs and returns the remaining components, such as plasma proteins, clotting factors, and platelets, to the patient.
- SF level should be checked monthly during the course of phlebotomy until a goal SF level of 50–100 ng/mL is reached.
- The goal of phlebotomy is to achieve a SF level between 50 and 100 mg/dL.
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