This page contains information on genetic counselling for GPs in the South West.
Here are some points to consider before referring a patient with a haemoglobinopathy to Clinical Genetics:
- If an affected patient and their partner are planning a family/are of reproductive age, the GP should test the partner via a haemoglobinopathy screen
- If both partners are either affected or carriers, they should be referred to Clinical Genetics and flagged as both affected/carrier. We would then have a discussion around reproductive options
- If completed their family, less of a need to refer unless the couple would find this helpful
- Adult carriers can be offered a referral to Clinical Genetics for a discussion, if they want to find out more. If they feel happy with information given already, they don’t need to be referred.
- The following digital leaflets can be a helpful resource for patients and may give them the info they require: Screening in pregnancy: information leaflets – GOV.UK (carrier leaflets at the bottom of the page)
- For children, if born in the UK, they should have had testing via the heel prick test
- Children of reproductive age onwards could have a HbO screen via the GP
- We would not suggest screening younger children until older/of reproductive age
You can find out more and how to refer by visiting: Genetics – general (Remedy BNSSG ICB)
Here is a link to information leaflets for carriers of a haemoglobinopathy: Screening in pregnancy: information leaflets – GOV.UK
Here is a link to a patient information leaflet about genetic risk and planning a family. https://uhbw.mystaffapp.org/13450/document_view.pdf
This might be helpful to the patient before you refer them or when talking about a referral to the genetic service.