The Liver Centre
Kidshealth - Hemochomatosis in kids
Hereditary hemochromatosis is a genetic disease that causes the body to absorb and store too much iron . The condition gets its name from "hemo" for blood and "chroma" for color, referring to the characteristic bronze skin tone that iron overload can cause. Someone with hereditary hemochromatosis who has never taken an iron supplement could find out in later years that iron overload is causing serious health problems.
Iron is a trace mineral that plays a vital role in the body. Every red blood cell contains iron in its hemoglobin, the pigment that carries oxygen from the lungs to the tissues. We get iron from our diet, and normally the body absorbs approximately 10% of the iron found in foods. People with hemochromatosis absorb double that amount.
Once absorbed, the excess iron doesn't leave the body. Instead, it's stored in synovium (joints) and major organs such as the liver, heart, brain, pancreas, and lungs. Over many years, iron accumulates to toxic levels that can damage or even destroy an organ. The iron overload can cause many health problems, most frequently a form of diabetes that's often resistant to insulin treatment. Because of this, hereditary hemochromatosis is sometimes called "bronze diabetes."
Some people with the disease develop symptoms by age 20, although signs of the condition usually appear between ages 40 and 60, when iron in the body has reached damaging levels. Women are less likely to develop symptoms of iron buildup than men, probably due to normal iron loss during menstruation.
However, hereditary hemochromatosis should not be considered a disease of older people or men. Iron buildup is often present and silently causing problems long before symptoms occur — in men, women, adolescents, and in rare cases, children.
Causes of Hereditary HemochromatosisAlthough many people have never heard of the condition, hereditary hemochromatosis actually isn't rare at all. The condition affects as many as 1 in every 200 people in the United States, according to the Centers for Disease Control and Prevention (CDC).
Hereditary hemochromatosis is a genetic disorder caused by a mutation on a gene that regulates iron absorption — 1 in every 8 to 10 people in the United States carries a single copy of this defective gene, called HFE. Carriers don't necessarily have the condition themselves, but can pass the mutated gene on to their children.
Hereditary hemochromatosis is an autosomal recessive condition, which means that in order to get it, a child must inherit two mutated HFE genes — one from each parent. If a child inherits just one mutated HFE gene, the normal gene essentially balances out the defective HFE gene.
Even with two mutated genes, not everyone becomes ill. Although a majority of those with two mutated genes will eventually develop some type of iron overload, far fewer of these people will absorb enough iron to develop serious problems.
In some cases, inheriting only one mutated gene may still eventually lead to iron overload, possibly affecting the heart, according to the Iron Disorders Institute. In these people, the iron overload may be triggered by a precipitating factor, such as hepatitis (inflammation of the liver) or alcohol abuse. Individuals with one mutated gene who become ill may also have mutations in other genes, yet to be discovered, that increase iron absorption.
Signs and SymptomsSome people who test positive for hereditary hemochromatosis remain symptom-free for life. Kids who test positive rarely have any symptoms because iron takes years to accumulate.
Patients who do have symptoms may experience
It's important to understand that someone with hereditary hemochromatosis can have some symptoms without having all of them (i.e., heart problems without skin color changes, diabetes , or liver problems).
Diagnosis and ScreeningLuckily, the damage from hereditary hemochromatosis is completely preventable if the condition is diagnosed and treated early. Doctors may use several blood tests to measure the amount of iron in the blood and diagnose iron overload
Therefore, in cases in which high transferrin saturation and high serum ferritin are found but gene testing doesn't confirm hemochromatosis, a liver biopsy may be needed to determine whether symptomatic hemochromatosis exists or is likely to develop.
Also, the doctor may recommend a DNA test to confirm hereditary hemochromatosis when a spouse or first-degree relative (parent, child, or sibling) has been diagnosed with the disease.
Given the prevalence of the condition, some specialists suggest screening to detect hereditary hemochromatosis before it causes problems. The following approaches to screening have been suggested
TreatmentBesides specific treatment for complications of the condition — such as insulin for diabetes — most individuals with hereditary hemochromatosis are treated by regularly drawing blood, a process called phlebotomy that's similar to making a blood donation.
Initially, blood may be drawn once or twice weekly during the "de-ironing" phase until the level of iron in the body has dropped to normal. In many cases, it requires 2 or 3 years of periodic phlebotomy to reach the desired level.
After the de-ironing phase, when the serum ferritin level has fallen into the normal range, the patient usually remains on a maintenance schedule of three to four phlebotomy sessions a year. Doctors check ferritin levels annually to monitor iron accumulation. For most people, this treatment will continue for life.
ComplicationsWhen detected and treated early, any and all symptoms of hereditary hemochromatosis can be prevented, and the person can live a normal life. If left untreated, however, hereditary hemochromatosis can lead to damaging or even fatal iron overload.
Complications of untreated iron overload include: diabetes, arthritis, depression, impotence, hypogonadism (deficient production of sex hormones by the testicle or ovary), gallbladder disease, cirrhosis (disease and scarring of the liver), heart attack, cancer, and failure of other organs.
Caring for Your ChildTreatment for kids typically isn't as aggressive as for adults, and implementing some minor dietary changes can help slow iron accumulation.
Talk to your doctor about taking preventive measures to delay or reduce iron overload. You might
Reviewed by: Christopher Frantz, MD, and Steven Dowshen, MD
Date reviewed: March 2007
Note: All information on KidsHealth® is for educational purposes only. For specific medical advice, diagnoses, and treatment, consult your doctor.
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