Complications due to late diagnosis of genetic haemochromatosis At a glance
- Genetic haemochromatosis (GH) is an inherited condition where the body absorbs too much iron.
- As early diagnosis is difficult, many people are diagnosed later than they should be, leading to significant and lasting consequences.
- Compensation can help people who have suffered damage due to late diagnosis start to re-build their lives.
Genetic haemochromatosis (GH), also known as hereditary haemochromatosis, is an inherited condition where a faulty gene causes the body to absorb too much iron from the diet.
As the body has no means to excrete iron, it is deposited within various organs and tissues, slowly building up over a number of years causing damage. The most susceptible organs to iron overload are the liver, heart, adrenal glands, pancreas and the joints.
As the condition is often asymptomatic (shows no symptoms) early diagnosis can be difficult, with initial symptoms sometimes being vague and non-specific. Because of this GH is often diagnosed incidentally e.g. following a finding on a routine blood screening of abnormal liver function tests of elevated ferritin.
Below are symptoms associated with GH. However, as many of these symptoms are non-specific there may be other causes. These may also be the presenting complaint in GH. A diagnosis should be considered if any of the below symptoms, especially in combination, are present.
- Chronic fatigue, lethargy and weakness
- Arthritis affecting any joints, but particularly the second and third MCP joints (knuckle joints)
- Diabetes (late onset)
- Cardiomyopathy and abnormal heart rhythms
- Abdominal pain, often non-specific
- Abnormal liver function, enlarged liver, cirrhosis and cancer
- Psychiatric/neurological disorders such as depression, irritability, mood swings and impaired memory
- Bronzing of the skin (permanent tan)
- Erectile dysfunction, loss of sex drive
- Absent or irregular periods
GH can be diagnosed via simple blood tests (known as transferrin saturation and serum ferritin) which provide a crude measure of iron stores in the body. These tests are then followed by a simple genetic test (another blood test) that tests for the HFE gene mutation.
Once diagnosed, the treatment for GH is effective and simple and involves the regular removal of blood (venesection or phlebotomy). Depending on the degree of iron overload, this may initially need to be done weekly. Ferritin levels will be monitored and once restored to normal levels (indicating depleted iron stores), venesection will continue every few months as maintenance to ensure iron levels remain within the normal range.
It is likely that other tests will be required to assess whether there has been any organ damage and the extent of any damage that may have occurred.
Many people receive their hereditary haemochromatosis diagnosis far later than they should have done, which can lead to significant and lasting consequences.
If you have suffered due to late diagnosis of GH it is vital that you maximise your recovery through active rehabilitation. If you have suffered due to errors in treatment and have a compensation claim, we can help you rebuild your life by obtaining interim compensation payments at the earliest possible stage. These payments can help you with:
- Aids and equipment
- Care support
- Therapeutic services
- Case management.
We can also advise you on your benefit rights and can advise on dealing with any debts that you may have as a result of being off work. Our specialist community care team can also advise and support you regarding any health and social care provision you may be entitled to.
If you believe that you or someone you know has suffered as a result of medical negligence please contact Tim Spring. We deal with clients throughout the country and we will visit you at your home, hospital or rehabilitation unit.
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