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    Prevention

    How do I get porphyria?
    The genes people inherit play an important role in causing porphyria. Genes are responsible for managing the production of proteins that control the cells in your body. In porphyria, the gene that provides the instructions for making the enzymes needed to produce haem has an abnormality, known as a ‘mutation’. This mutation reduces the amount of haem your body can produce.

    People inherit two copies of genes, one from each parent. In most types of porphyria, people need to inherit only one copy of a mutated gene, this is called ‘autosomal dominant’ porphyria. In rarer porphyrias, including ADP and CEP, people need to inherit two copies of a mutated gene for the disease.

    Genes are only part of the cause of porphyria, however. Most people who carry the genes that can cause porphyria do not actually have the disease. These people are ‘carriers’ or people with ‘latent porphyria’ and could pass the gene onto their children.

    There are environmental factors that have an influence on whether people who carry the genes will become ill with porphyria. These can include excess alcohol, excess iron, exposure to oestrogen or other chemicals, viral infections and hepatitis C. The interaction of genetic and environmental factors is not well understood, meaning that for most patients it is not possible to predict or prevent the development of the disease.

    As porphyria is an inherited disorder, there is little people can do to avoid acquiring the condition. People whose parents have porphyria may want to take advice on precautions they can take to reduce their risk of developing the condition. Although you may not be able to prevent porphyria, there are a number of treatments and things you can do to manage your condition and prevent attacks.