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Pregnancy Screening Results: Beta Thalassaemia carrier

What does this mean to the patient?

When a patient is identified as a carrier of beta thalassaemia, information on their implications can be found in the following leaflet and ordered via PHRD:

Beta Thalassaemia 2.PNG

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 Beta Thalassaemia carrier screening, can be downloaded or ordered via PHRD. 

Actions

  • 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 the partner is a carrier of Beta Thalassaemia, Sickle Cell Disease (Haemoglobin S), Haemoglobin E, Haemoglobin Lepore, Haemoglobin OArab or Delta-Beta Thalassaemia, refer URGENTLY to Clinical Genetics for appropriate counselling on their reproduction options.
    • If partner is a carrier of any other haemoglobin variant, reassure the couple as there is no other relevant interaction with any other haemoglobin variant.
  • 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.
  • Give the appropriate information leaflets. (“You are a carrier of beta 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.

More Information

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]