Genetic Test Ordering in Primary Care: Hereditary Haemochromatosis
Clinicians in Primary Care can request genetic testing for hereditary haemochromatosis. There is no need to refer patients to Clinical Genetics for this test.
Arrange Testing
If you feel confident requesting genetic testing for hereditary Haemochromatosis, click the button to access the necessary documents.
If you need more help arranging testing for your patient, the resources below should help.
Video
Watch a short video in which Debbie Hipps, our Primary Care Lead, explains how to request genetic testing
GeNotes: in the clinic resource
Focused on the point of patient care, this short scenario looks at when to consider genomic testing for hereditary haemochromatosis and what you need to do.
GeNotes: Knowledge Hub
Extend your learning with this encyclopaedia of resources, designed to support your understanding of genomics in medicine.
GP's Quick Guide to Genetic Haemochromatosis
A guide containing key information a GP needs to know about genetic haemochromatosis, including prevalence, genetics, early, classic and late symptoms, primary care testing and primary care pathway. It also covers treatment and ongoing management.
Genetic haemochromatosis in Primary Care
A resource produced by Bristol, North Somerset and South Gloucestershire Integrated Care Board to support Primary Care clinicians
Frequently Asked Questions
Hereditary haemochromatosis is an inherited condition characterised by an excess of iron in particular organs in the body. It is caused by pathogenic variants in the HFE gene. Hereditary haemochromatosis affects all genders equally, though women often present later than men.
GeNotes has produced a helpful summary about the condition: GeNotes Hereditary haemochromatosis
1 in 10 Northern Europeans are carriers for one mutation in the HFE gene. The carrier frequency varies amongst different populations.
Being a carrier is not associated with any health implications.
Up to 1 in 200 people will carry two mutations in the HFE gene. Most individuals will remain asymptomatic, and only a few will go on to develop the complications of haemochromatosis.
If the patient does carry two mutations, we recommend annual iron studies. If these are abnormal, we recommend a referral to the Haematology Department for further discussion about ongoing management.
Patients can be offered genetic testing if they meet the eligibility criteria outlined in the National Genomic Test Directory. To view these criteria, visit our ‘Order a Test’ page: Order testing for Haemochromatosis
Funding for genetic investigations is now held by the laboratory hub. Primary care physicians are able to request certain genetic investigations directly and will not be charged.
Before arranging testing, you should explain the possible outcomes of the test to your patient. You can use the Record of Discussion form to help with this
You also need to complete a Test Request Form
The Record of Discussion form and Test Order form can be downloaded from our ‘Order a Test’ page: Â Order testing for Haemochromatosis
The blood sample should be stored in an EDTA tube (purple top) and sent with the Test Request Form to
Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT
The Test Order form can be downloaded from our ‘Order a Test’ page: Order testing for Haemochromatosis
The Record of Discussion form can be used to explain to the patient what the potential outcomes of the test could be.
The Record of Discussion form can be downloaded from our ‘Order a Test’ page: Order testing for Haemochromatosis
The sample should be collected in an EDTA tube (purple top)
Please include as much detail as possible in this box, including the reason for offering the patient a test.
If the patient is having testing because their relative has been found to have a causative gene variant, please include details of the affected relative (name and DoB) and your patient’s relationship to the relative e.g. brother.
The code for hereditary haemochromatosis testing is ‘R95 Iron overload – hereditary haemochromatosis testing’. Please write this on the test request form.
Please write your name and contact details in this box. As the requesting clinician, you will receive the report and it is your responsibility to inform the patient of the result.
The laboratory is only able to email genetic test results to the email address that you provide on the form. It may be helpful to use a ‘group’ or departmental email address to reduce the chances of a result email being missed.
If a patient is found to carry two mutations, they will be at increased risk of developing complications of haemochromatosis. We would advise annual iron studies. If these are abnormal, a referral to the Haematology department for a further discussion about management.
Approximately 1 in 10 Northern Europeans are carriers for one mutation in the HFE gene. Being a carrier is not associated with any health implications. You do not need to refer your patient to Clinical Genetics
If your patient is a carrier, we would advise carrier testing for their partner, and children in adulthood. This can be arranged by the GP. Clinical Genetics do not accept referrals for carrier testing for this condition.
If your patient is a carrier, we would advise carrier testing for their partner, and children in adulthood. This can be arranged by the GP. Clinical Genetics do not accept referrals for carrier testing for this condition.
GeNotes has produced a helpful summary about the condition: GeNotes Hereditary haemochromatosis
Haemochromatosis UK have also developed a Quick Guide for GPs
The pages below have been developed to support people affected by haemochromatosis:
- NHS Health A-Z Haemochromatosis:Â Visit the NHS website
- Haemochromatosis UK: Visit the website here
- British Heart Foundation What is Haemochromatosis?:Â Visit the BHF website