[Haemochromatoses. New understanding, new treatments]

Area of Science:

• Genetics
• Hematology
• Metabolic Diseases

Context:

• Haemochromatoses are a group of genetic iron overload disorders.
• HFE-related haemochromatosis is the most prevalent form.
• Other forms involve mutations in hemojuvelin, hepcidin, transferrin receptor 2, and ferroportin genes.

Purpose:

• To outline the spectrum of genetic haemochromatoses.
• To describe the underlying mechanisms of iron excess.
• To review diagnostic and therapeutic strategies.

Summary:

• Iron overload in these diseases stems from deficiencies in hepcidin or ferroportin, key regulators of iron metabolism.
• Diagnosis relies on non-invasive clinical, biological, and imaging methods.
• Treatment includes venesection for hepcidin deficiency and oral chelation for ferroportin deficiency.

Impact:

• Establishing reference and competence centers in France enhances disease understanding and patient care.
• Future therapeutic avenues include hepcidin supplementation and oral chelation therapies.
• Improved diagnostic and management strategies are crucial for rare genetic iron overload diseases.