Pregnancy Screening Resullts: Alpha Zero Thalassaemia carrier
A haemoglobinopathy screen cannot differentiate between alpha thalassaemia carriers and iron deficiency. For this reason, it is important to interpret the patient’s results in combination with ferritin levels.
What does this mean to the patient?
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.
- If patient is found to have reduced MCV and MCH indices, iron supplementation is not required unless the patient’s ferritin levels are reduced.
- 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 variants, the couple have a 1 in 2 chance (or 50%) to have children who are healthy carriers.
- If partner is a carrier of alpha plus or alpha zerothalassaemia, refer URGENTLY to Clinical Genetics for appropriate counselling and to discuss further testing.
- If partner is a carrier of any other haemoglobin variant, reassure the couple.
- If the couple has other children, only test them if the partner is a carrier of alpha zero thalassaemia. Children diagnosed with Haemoglobin H disease should be referred to Haematology. 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.
- Give the appropriate information leaflets. (“You are a carrier of Alpha zero Thalassaemia”)
- 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)
Newborn Screening Results