Pregnancy Screening Results: Sickle Cell Carrier
What does this mean to the patient?
When a patient is identified as a carrier of sickle cell, information on their implications can be downloaded or ordered via PHRD.
It is important to offer testing to the partner to make sure there is no risk to have a baby with a haemoglobin disorder. Ideally, results from both parents’ results should be available before week 12 of pregnancy to enable decisions regarding prenatal diagnosis. Information for fathers on sickle cell thalassaemia screening, can be downloaded or ordered via PHRD.
- Test partner, if not done previously (that includes: haemoglobin screen, full blood count and ferritin levels). This can be done in primary care.
- If partner is not a carrier of any haemoglobin variant, the couple has a 1 in 2 chance (or 50%) to have children who are carriers.
- If partner is a carrier of any haemoglobin variant, refer URGENTLY TO Clinical Genetics for appropriate counselling and to discuss further testing.
- If the couple has other children, only test them if the partner is a carrier of a haemoglobin variant. Otherwise, there is no need to test them unless they present with health problems. It is normally recommended to postpone testing until the age of 16, to enable them to make their own informed decision.
- Stress that other family members can be carriers, so it is advisable to circulate the information to first-degree relatives (parents and siblings). They can request a test called “haemoglobinopathy screen” via their GP.
- Make sure the patient understands the rare health issues associated with being a carrier. They should therefore be advised to:
- Avoid situations where there may be a shortage of oxygen (deep-sea diving, unpressurized aircrafts, etc).
- Inform the anaesthetist if they are going to require an anaesthetic.
- Keep well hydrated.
- Refer children and adults with haematuria.
- Refer children and adults urgently if they present with symptoms suggestive of renal medullary cancer. Symptoms include: haematuria, weight loss, loin pain, fever and abdominal pain.
- Give the appropriate information leaflets. (“You are a carrier of sickle cell.”)
- Make sure the patient had received his/her haemoglobinopathy card.
- Explain that it is still important to have malaria prophylaxis if visiting an area where malaria is endemic.
If you would like more information about haemoglobinopathies and testing, please do not hesitate to contact:
Community Genetic Counsellors on Tele: 0141 354 9201 / 0141 354 9229 (secretary)
Email: [email protected]