Managing Hemochromatosis

Hemochromatosis is an iron overload disorder characterized by iron accumulation in the liver, pancreas, pituitary gland, heart, thyroid, joints, gonads, and skin. This leads to organ dysfunction and skin discoloration. Iron accumulation in macrophages can compromise immunity and increase infection risk.

The most common form is primary hereditary hemochromatosis, associated with reduced hepcidin production and excessive iron absorption. The excess iron builds up in tissues because it cannot be readily excreted. Hereditary hemochromatosis is an autosomal recessive disorder often seen in individuals of European descent of which 1 in every 300-500 individuals are affected.

Secondary hemochromatosis is associated with specific hematological disorders, such as erythropoietic hemochromatosis. Secondary hemochromatosis can also be associated with iron accumulation from red blood cell damage that can occur with thalassemia and sickle cell anemia, disorders requiring frequent blood transfusions (Porter 2024).

General Guidelines

Primary (hereditary) hemochromatosis is conventionally treated with phlebotomy (Porter 2024):

• Phlebotomy is usually performed 1-2 times weekly, removing 500 mL of blood each time until ferritin levels normalize.
• The goal is to reach a ferritin level below 50 ng/mL (50 ug/L).
• It may take 50-100 phlebotomies to normalize iron levels.
• Once iron levels are normalized, phlebotomy is performed 3-4 times yearly.
• Insulin sensitivity, skin discoloration, and fatigue should improve with phlebotomy, though arthropathy, hypogonadism, and cirrhosis are not likely reversible.
• Phlebotomy is more effective than chelation therapy for hereditary hemochromatosis.
• Erythropoietin may be given in conjunction with phlebotomy to maintain hemoglobin levels while promoting iron mobilization.
• Erythrocytapheresis (removal of red blood cells) may be an alternative to phlebotomy (Porter 2024):
  • It operates more rapidly than phlebotomy.
  • It quickly improves fatigue, cognition, and ferritin levels.

• Early initiation of phlebotomy can reduce organ damage and symptoms associated with hemochromatosis (Pagana 2021).
• Initiating phlebotomy before developing diabetes or cirrhosis can extend life expectancy (Raymond 2021).

Erythropoietic hemochromatosis is a form of secondary hemochromatosis associated with red blood cell fragility and destruction (Porter 2024):

• Phlebotomy is not typically used in erythropoietic hemochromatosis.
• Chelation therapy may be more effective:
  • Deferoxamine, deferiprone, and deferasirox are equivalently efficacious in mobilizing and excreting iron.
  • Deferoxamine is an intravenous iron-chelating agent.
  • Deferiprone and deferasirox are oral iron chelators.

Millman 2024

Dietary Guidelines

• Avoid cast iron cookware, iron supplements, and high-iron foods, including liver and red meat (Raymond 2021).
• Vitamin C enhances the absorption of non-heme iron and should be taken separately (Porter 2024).
• Excessive alcohol intake and viral hepatitis increase liver and pancreatic toxicity (Porter 2024).
• Avoid handling or consuming raw shellfish due to increased risk of infection with vulnificus (Porter 2024).
• Dietary guidance to reduce iron exposure and absorption (Milman 2021)
  • Choose a varied flexitarian, vegetarian, semi-vegetarian diet, e.g., a veggie-lacto-ovo-poultry-pescetarian diet.
  • Include fish, eggs, vegetables, and legumes for protein sources.
  • Avoid processed meat, offal, and blood-containing foods.
  • Consume at least 20 ounces of fruits and vegetables per day.
  • Avoid iron-enriched grains.
  • Decrease compounds that promote iron absorption and increase inhibitors.

The Most Important Promoters and Inhibitors of Non-heme Iron Absorption (Millman 2024):

Optimal Takeaways

• Hemochromatosis can be primary (hereditary) or secondary.
• Iron intake and exposure should be significantly limited with hemochromatosis.
• Phlebotomy is the primary treatment for hemochromatosis.
• Erythrocytapheresis (removal of red blood cells) may be an alternative to phlebotomy.
• Chelation may be effective in erythropoietic hemochromatosis, a type of secondary hemochromatosis.
• Avoid excess alcohol, iron supplements, and iron cookware.
• Decrease promotors and increase inhibitors of non-heme iron absorption.
• Adopt a veggie-lacto-ovo-poultry-pescetarian-type diet.

References

Milman, Nils Thorm. “Managing Genetic Hemochromatosis: An Overview of Dietary Measures, Which May Reduce Intestinal Iron Absorption in Persons With Iron Overload.” Gastroenterology research vol. 14,2 (2021): 66-80. doi:10.14740/gr1366 This article is distributed under the terms of the Creative Commons Attribution Non-Commercial 4.0 International License.

Pagana, Kathleen Deska, et al. Mosby's Diagnostic and Laboratory Test Reference. 15th ed., Mosby, 2021

Porter, Joann L. and Prashanth Rawla. “Hemochromatosis.” StatPearls, StatPearls Publishing, 6 October 2024.

Raymond, Janice L., et al. Krause and Mahan's Food & the Nutrition Care Process. Elsevier, 2021).