What does this mean to the baby and his/her parents?
Information on the implications for the newly diagnosed can be found in the following leaflet and ordered via PHRD:
When a baby is identified as a carrier of sickle cell disease it is important to test the parents, if not done before. This way it can be confirmed from which parent this has been inherited and, at the same time, it ensures there are no risks for future pregnancies.
When either parent has been confirmed as a carrier of sickle cell, information on their implications can be found in the following leaflet and ordered via PHRD:
Test baby’s parents, if not done previously (that includes: haemoglobin screen, full blood count and ferritin levels). This can be done in primary care.
If the couple has other children, only test them if the parent is a carrier of any other haemoglobin variant. Otherwise, there is no need to test them unless they are 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:
Refer children and adults with haematuria.
Refer children and adults urgently if they present symptoms suggestive of renal medullary cancer. Symptoms include: haematuria, weight loss, loin pain, fever and abdominal pain.
Give the appropriate information leaflets (“Information for mums and dads: your baby carries a gene for sickle cell” and “You are a sickle cell disease”).
Make sure the patient has 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 Tel: 0141 354 9201/ 0141 354 9229 (secretary)