Hereditary haemochromatosis facts for kids

Hereditary hemochromatosis is a disease that happens when a person's body takes in and stores too much iron. This extra iron can build up to dangerous levels in different parts of the body.

Humans, like most animals, don't have a way to get rid of too much iron. When there's too much iron, it starts to collect in tissues and organs. This can stop them from working properly and cause health problems.

This type of hemochromatosis is passed down through families. It's most common in people who have ancestors from Northern Europe, especially those of Celtic background.

What is Hemochromatosis?

Hemochromatosis is a condition where your body absorbs too much iron from the food you eat. Iron is a very important mineral that your body needs to stay healthy. It helps your blood carry oxygen to all your cells. But like many good things, too much iron can be harmful.

Why Iron is Important (and Why Too Much is Bad)

Imagine iron as a building block for your body. It's a key part of hemoglobin, which is a protein in your red blood cells. Hemoglobin is what makes your blood red and helps it carry oxygen from your lungs to every part of your body. Without enough iron, you can feel tired and weak, a condition called anemia.

However, your body is very good at holding onto iron. It doesn't have an easy way to get rid of extra iron. So, if you absorb more iron than you need, it starts to pile up. This extra iron can then damage your liver, heart, pancreas, and other important organs.

How Does Hereditary Hemochromatosis Happen?

Hereditary hemochromatosis is a genetic disorder. This means it's caused by a change, or mutation, in a specific gene. Genes are like instruction manuals inside your cells that tell your body how to grow and work.

In this condition, the gene that controls how much iron your body absorbs isn't working correctly. Because of this faulty instruction, your body keeps absorbing iron even when it has plenty. Over many years, this extra iron builds up.

Who Gets Hereditary Hemochromatosis?

This genetic condition is more common in certain groups of people. It's especially found in people whose families come from Northern Europe. This includes countries like Ireland, Scotland, England, and Scandinavia. Many people with Celtic ancestry carry the gene that causes this condition.

How is it Inherited?

Hereditary hemochromatosis is inherited in a way called an autosomal recessive pattern. This sounds complicated, but here's what it means:

• You have two copies of every gene, one from your mother and one from your father.
• For you to get hereditary hemochromatosis, both copies of the specific gene must have the mutation.
• If you only get one copy of the mutated gene (from one parent), you are called a "carrier." Carriers usually don't show signs of the disease themselves.
• If both your parents are carriers, there's a chance you could inherit two mutated copies and develop the condition.

Most often, the parents of someone with this condition are carriers. They don't have the disease, but they each passed on one copy of the changed gene.

What Happens When Iron Builds Up?

When too much iron builds up in your organs, it can cause various problems. For example:

• Liver: The liver is a major storage site for iron. Too much iron can lead to cirrhosis (scarring of the liver) and even liver failure.
• Heart: Iron can collect in the heart muscle, making it harder for the heart to pump blood. This can lead to heart failure.
• Pancreas: The pancreas makes insulin, a hormone that controls blood sugar. Iron buildup can damage the pancreas, leading to diabetes.
• Joints: Iron can also settle in your joints, causing pain and arthritis.
• Skin: Some people might notice their skin turning a bronze or grayish color due to iron deposits.

See also

• In Spanish: Hemocromatosis hereditaria para niños