Frequently Asked Questions (page 2)


Q: I have haemochromatosis and I am pregnant or planning to become pregnant? Will there be any complications?

A: There is no reason why pregnancy should not progress normally, however there are a few things to be aware of.

While iron supplements should be avoided, iron deficiency is common and should be treated in a similar fashion to any other pregnant woman.

If ferritin is high then venesection should be delayed until you recover from childbirth unless there are haemochromatosis related liver and cardiac issues. Then you should seek advice from your consultant who should be able to give reassurance or develop a treatment plan.

Normal monitoring of mother and foetus should be sufficient but you should inform all medical staff involved in your pregnancy of your condition.

In simple terms, you should be fine but if you have any worries, ask your doctors.

Q: Do I have to inform insurers about my haemochromatosis?

A: Yes, there are circumstances in which you must disclose your medical history properly, most notably when you apply for insurance (called the proposal) or if you have to make a claim. The principle is one of full disclosure and if an insurer is not fully informed about your condition then it is possible that your contract with them will be void, and no payment would be made in the event of a claim. This will apply to many types of insurance. A health, medical, or life insurance policy that is already in force when you are diagnosed, assuming you acted in good faith at the time of the original proposal, will not normally be affected, though premiums may rise. You should consult an independent financial adviser or insurance broker if you have any doubts about how to respond to the wording of a particular question on any form or how to disclose.

Q: Do my family need to be tested?

A: This is wise because genetic haemochromatosis (GH) is an inherited condition. The gene that is implicated in the vast majority of GH patients is recessive, and you can see how this might run in a family at our page on the Genetics of GH

Children, parents, partners and others should all consider testing. Genetic testing in particular should be discussed with your consultant – or a geneticist or genetic counsellor – beforehand. Blood tests may be simpler and easier to arrange as a starting point. Children should normally only be tested once they are old enough to understand the tests and their implications; your doctor will be best placed to recommend when this is appropriate.

Q: What is meant by homozygous and heterozygous?

A: This refers to the way in which the HFE gene is mutated in an individual patient. There are two main mutations (faults) in the gene which are known to increase the risk of iron overload, known as C282Y and H63D

  • where someone has the same mutation on both of their copies of the HFE gene they are said to be homozygous for the mutation, and are at much higher risk of iron overload
  • where someone has  the H63D mutation on one copy of the HFE gene and the C282Y mutation on the other they are said to be compound heterozygous
  • where someone has one copy of the mutated gene, but the other is normal, they are said to be heterozygous for that mutation (and are carriers)

There are other, rarer mutations that are believed to cause haemochromatosis and possibly other genes also implicated, but this is not currently fully understood or researched.

Q: Do carriers (heterozygotes) have to worry about symptoms?

A: Some carriers will load iron and exhibit symptoms. Though the inheritance pattern (recessive) and the mutations involved in GH are well researched, there are evidently other factors at play which are not fully understood. The incidence of iron overload in people with the mutated genes is referred to as the ‘penetrance’ of the disease and is not properly researched in any of the possible scenarios described above.

Q: How should I prepare for venesection?

A: Everyone copes with frequent venesection differently, it can depend on many factors, for example how accessible a suitable vein is, your weight, levels of hydration, age, broader state of health, haemoglobin levels, the quality of care you receive, and much more. There is lots more information about this in The Haemochromatosis Handbook but some basic measures are to exercise regularly, drink plenty of water prior to venesection, and to communicate with your doctor and venesector about the process and during it, especially if you feel unwell. Some individuals report some practical steps do help with venesection, for example the use of heat pads, or a few minutes exercise just before the needle is inserted.