Genetic Prevention for Iron and Copper Storage Disorders

Module PRV04

With an iron or copper storage disorder, the micronutrients iron or copper accumulate excessively in the body and can harm the organs. Early diagnosis of this metabolic disease aims to minimize associated complications and to improve the quality of life of affected people.

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What Are Iron and Copper Storage Disorders?

The trace elements iron and copper are essential for our body, as they are involved in important processes such as oxygen transport and the transmission of stimuli in nerve cells. In people with iron or copper storage disorders, the balance between absorption and excretion of those elements is disturbed. As a result, excessive amounts of these substances can accumulate in several organs and tissues, which can cause various damage and associated symptoms.

Symptoms of Wilson's disease

Figure 1: Symptoms of the Wilson’s disease.

The symptoms are usually unspecific at first. For example, weakness, tiredness, abdominal pain or weight loss may occur. This makes the diagnosis of such a disease difficult at first without genetic analysis.

The copper storage disorder Wilson’s disease can lead to an increased accumulation of copper in the liver, the eye, the central nervous system and other organs (figure 1). This results in a diverse pattern of symptoms.

In the long term, the accumulation of too much iron or copper can also cause organ-specific symptoms, such as damage to the liver (e.g. liver cirrhosis and liver carcinoma) (figure 2).

Stages of liver destruction

Figure 2: Stages of liver destruction.

Field Report

Tamika K., 24 years old

Lifestyle: health diet, very active in sports

Result: our preventive diagnostics for Tamika K. identified a variant in the gene HFE that increases the risk for the iron storage disorder hemochromatosis.

Consequence: Tamika K. participates in regular preventive checkups and will receive, if necessary, a therapy to treat hemochromatosis to avoid symptoms and sometimes irreversible organ damage.

“I was surprised to find out that I have a variant that can cause a condition called hemochromatosis. This condition causes an accumulation of iron in the liver. Fortunately, it is possible to treat the disease and thus avoid complications as far as possible.”

Tamika K. has an increased risk of the iron storage disease hemochromatosis.

How Does Genetic Risk Assessment Work?

Preventive genetic analysis with the help of next-generation sequencing (NGS) technology can predict the risk of getting a certain disease before its outbreak.

In the module Iron and Copper Storage Disorders, eight genes are examined that play a role in the functioning of the iron or copper metabolism. If respective disease-causing changes are detected, those people can start an adequate therapy when necessary and prevent possible damage.

Gene Set

Iron and Copper Storage Disorders (PRV04, 8 Genes)

ATP7B, CP, GLRX5, HAMP, HFE, HJV, SLC40A1, TFR2

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