Iron Storage Disease

Jul 06, 2022

Although iron storage disease is a real condition, the fact that it rarely causes health conditions doesn’t offset the decision to take iron out of regular multiple vitamins and minerals on the market. Those who have the condition should obtain their supplements from their medical doctor, as they have a medical condition. Those who do not have the condition should not be restricted from the necessary nutrient added into their multi-vitamin formula.

Medical name for iron storage disease: hemochromatosis

Fact: The disease itself is rare; the genotype and associated biochemical changes are common. Only a few develop severe disease.

Disease facts:

1.     In the condition, iron begins accumulating in the body and can end up being stored in the pancreas, liver, brain, heart, or joints.

2.     Hereditary hemochromatosis is treated by phlebotomy (reduce the amount of blood to let out some of the iron) although recent studies don’t show any benefit from this. Some forms require chelation therapy to pull out the excess iron.

3.     If left untreated, iron overload may be fatal.

4.     Symptoms of hemochromatosis include weakness, fatigue, hair loss, impotence, joint pains, arthritis, memory loss, and increased skin pigmentation.

5.     Some types of iron storage disease are acquired, not genetic, and include these causes: thalassemia, myelodysplastic syndromes, sickle cell disease, red cell enzyme deficiencies, and multiple blood transfusions.

6.     If a patient with iron storage disease develops cirrhosis, about 29% of patients who are treated could develop a liver tumor. Recent studies though have found that up to 2% of all males with the homozygous genotype develop the hepatoma.

7.     Patients with hemochromatosis are at risk for developing pancreatic cancer because the iron may accumulate in the pancreas.

8.     Assessing the patient’s iron status every five years is adequate for those with hemochromatosis.

Why does iron stay in the body and cause iron storage disease?

The metabolism of iron in the body is a closed circuit in which the iron the body has is reused. However, in hemochromatosis, the iron accumulates excessively. In these patients, the absorption of iron is dysregulated, and too much iron is absorbed.

The body possesses “mucosal intelligence” where the mucosal lining of the GI tract knows how much iron – and other nutrients to absorb. When there’s a deficiency of iron, more iron is absorbed. When there’s too much iron coming into the body, less is absorbed. If there is anemia, more is absorbed. If there’s inflammation, less is absorbed. Too little oxygen in the body increases the iron absorption.

The central regulator of iron homeostasis in the body is a protein called hepcidin. There are 10 genes that could mutate and cause down-regulation of the mucosal intelligence, resulting in iron overload. Three genes are up-regulators and can cause iron deficiency. The gene responsible for the most common form of the disease was called HFE in 1996 and it is found in about 5 of every 1,000 people.

Extrapolating the numbers out, that’s about 500 people for every 100,000 who might have a problem, and 95% of the males don’t show any problems at all. That takes the number down to 475.

Johns Hopkins Medicine site states that hemochromatosis affects one in 300 people in the U.S. and is most common in Caucasians of Northern European descent but there is no backup research to support this number. Symptoms occur after age 50. In women, symptoms may appear later about 10 years after menopause.

The number of people in the population with the genetic changes (homozygotes) does not decrease with increasing age. Therefore, the disease apparently does not result in premature death.

Cirrhosis of the liver, enlarged heart and diabetes are some of the clinical manifestations of iron storage disease. Cirrhosis occurs when serum ferritin reaches 1000 ug/L and that’s when some blood-letting is due. However, joint symptoms do not respond to phlebotomy. Fatigue is not a reason to start the therapy.

Iron storage disease is a disease that still needs a lot of research. In the meantime, doctors could do their due diligence by running the blood tests for iron storage disease on their patients and stand up for the droves of patients that have iron deficiency anemia and need their daily iron in their supplements. They could have their own line of supplements for those with iron storage diseases. This is done in veterinary medicine for different diseases; why not human medicine?


Beutler, Ernest, M.D. Iron Storage Disease: Facts, Fiction and Progress. Blood Cells Mol Dis. 2007:39(2):140-147.

Hemochromatosis. Johns Hopkins Medicine.