Did you know hemochromatosis is relatively common in the United States, particularly among individuals of Northern European descent?
It is estimated that about 1 in 200 to 1 in 300 people of European ancestry carry the genetic mutations that can lead to hereditary hemochromatosis. However, not everyone who carries the gene will develop the disease, as it typically requires inheriting two copies of the mutated gene (one from each parent) for the disorder to manifest. This makes the actual prevalence of clinically significant hemochromatosis lower, affecting about 1 in 1,000 to 1 in 2,000 people in the general population.
For those of you who don’t know what hemochromatosis is, it is a genetic disorder that causes the body to absorb and store too much iron from the food we eat and struggle to recycle the iron being stored in the liver through the reticuloendothelial system, also known as the RES system.
The reticuloendothelial system (RES), now more commonly referred to as the mononuclear phagocyte system (MPS), is a network of cells and tissues in the body that is responsible for filtering the blood and defending against infections. It is primarily composed of macrophages, which are specialized white blood cells that engulf and digest pathogens, dead cells, and other debris. The system includes various organs and structures such as the liver, spleen, bone marrow, and lymph nodes, where these macrophages are found in abundance.
The primary function of the reticuloendothelial system is to remove foreign substances and cellular waste from the bloodstream. Macrophages in the RES are involved in both innate immunity (the body's first line of defense against pathogens) and tissue repair. When harmful microorganisms, dead cells, or other debris enter the body or circulate in the blood, macrophages detect them using pattern recognition receptors. Once a pathogen or debris is identified, the macrophages engulf it through a process called phagocytosis. After engulfment, the material is broken down and eliminated.
Most importantly in regards to iron, the RES plays a role in maintaining the balance of the body’s iron levels, as macrophages in the liver and spleen help recycle iron from old red blood cells. The system also participates in the presentation of antigens to other immune cells, which helps the body mount a more specific immune response if necessary. This is how iron overload can be avoided.
Going back to hemochromatosis with the body absorbing too much iron or not recycling it, over time, this excess iron builds up in various organs, particularly the liver, heart, and pancreas, which can lead to serious health complications. The condition is most commonly caused by mutations in the HFE gene, which regulates iron absorption in the intestines.
There are two primary forms: hereditary hemochromatosis, which is inherited from one's parents, and secondary hemochromatosis, which results from other medical conditions or treatments that lead to iron overload.
Symptoms of hemochromatosis can be subtle in the early stages, often including fatigue, joint pain, and abdominal discomfort. This can sometimes even be mistaken for anemia at times without testing. As iron accumulates, more severe complications may arise, such as liver disease (including cirrhosis), diabetes, heart problems, and hormonal imbalances. Diagnosis is typically made through blood tests measuring iron levels and genetic testing for HFE mutations.
Treatment generally involves phlebotomy (regular blood removal) to reduce iron levels, and in some cases, chelation therapy may be used, but not always recommended. Early detection and treatment are crucial to preventing irreversible organ damage.
This is why it is imperative for testing prior to any supplementation, for supplementing iron in moments one may think they’re deficient, when they’re overloaded, can be lethal.
The best way to test for iron overload is to run a Full Monty Iron Panel, which consists of Iron, Total Iron Binding Capacity (TIBC), Ferritin, Transferrin, to test for iron storage and utilization, as well as cofactors such as Ceruloplasmin, Copper, Magnesium RBC, Uric Acid, Vitamin A (Retinol), Vitamin D.
Be aware of this, and don’t go supplementing iron all willy nilly!