Medicines to replace venesection

There are two different types of medicines that researchers have looked at. These can mean haemochromatosis patients need to have blood taken (venesection) less often:

• drugs that mimic a hormone called hepcidin
• proton pump inhibitors (PPIs).

Drugs that mimic hepcidin

Researchers have developed drugs that work in the same way as a hormone called hepcidin. This natural body hormone controls iron storage in the liver. When the body has enough iron, the HFE gene signals to the body to produce hepcidin and this tells the body to absorb less iron. If you have haemochromatosis, you don’t produce enough hepcidin to control your iron levels.

Early trials show that a weekly injection of this type of drug could replace venesection in controlling iron levels. Patients in these trials had injections under the skin (subcutaneously). Most of them (15 out of 16) didn’t need venesection at all while they were having the treatment. But do remember this is early research and much larger trials will have to be done before it can replace standard treatment.

It’s important that new treatments are more acceptable to patients than existing ones.
For most people, it’s likely that needing a weekly subcutaneous injection would be more disruptive than having venesection every 2 – 6 months. But this type of treatment could be better for patients who can’t have venesection for any reason.

Proton pump inhibitors (PPIs)

You may have heard of medicines called PPIs, such as omeprazole and lansoprazole. They are medicines used for acid reflux and to treat stomach ulcers. You take them as tablets.

PPIs cut down the amount of iron you absorb from your food. So researchers have tried using them to help control iron levels in haemochromatosis. In early research patients taking PPIs did need to have blood removed less often.

PPIs do have side effects though, particularly if you take them long term.  So far, there isn’t enough evidence to show that they could replace standard treatment with venesection. They do also have side effects and are not currently recommended by doctors as a treatment for haemochromatosis.

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Gene therapy

You may have read about treatments now being tried for some genetic conditions. These use a technique called CRISPR. This is a way of editing DNA to correct gene variants that cause disease.

Researchers have found that it would be possible to edit the genes that cause haemochromatosis and correct the C282Y gene variant, which causes the majority of cases. But this hasn’t yet been proven to work in people. There will be a lot of research needed before a gene therapy can be developed. Clinical trials will also need to show that the treatment lasts and is safe long term. It’s one to watch for the future.

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