Hereditary Hemochromatosis

red blood cells

While hereditary hemochromatosis is a genetic mutation that is present from birth, it is often not diagnosed until much later in life because iron accumulation takes time.

What is it?

Hereditary hemochromatosis, or iron storage disease, is a genetic condition that causes the body to absorb too much iron. While most people absorb about 10% of the iron they ingest, those with hemochromatosis absorb about twice as much and store it in their body's joints and major organs.

Over time, this accumulation of iron can reach toxic levels and cause serious damage to, or even failure of, major organs. One common problem associated with hemochromatosis is what is known as “bronze diabetes.” (Bronze for the pigment of the skin that is associated with high levels of iron in the blood.) This is a common problem with hereditary hemochromatosis, and sufferers are often insulin resistant as a result of damage to their pancreas from iron overload.

{ MORE: Iron and Your Child: How Much is Needed? }

While hereditary hemochromatosis is a genetic mutation that is present from birth, it is often not diagnosed until much later in life because iron accumulation takes time, and symptoms often take years to present themselves. So even if your child is accumulating excess iron, it is nearly impossible to detect without a blood test.

Causes

According to the Centers for Disease Control and Prevention, hereditary hemochromatosis affects about 1 in every 200 people in the United States. It is caused by a mutation on the HFE gene—the gene that regulates iron absorption. While about 1 in every 8 to 10 people carries a copy of this defective gene, hereditary hemochromatosis is an autosomal recessive condition (like having blue eyes), which means that in order to get it, a child must inherit two mutated HFE genes—one from each parent. So just like a parent may have brown eyes, but their child has blue eyes, a parent may be a carrier for a recessive condition for which they never experience symptoms.

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Hereditary Hemochromatosis

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