04 May 2022
With SA’s diversifying population, up to 1 in 30 people are now thought to be carriers of a form of thalassaemia (e.g., alpha thalassaemia or beta thalassaemia) or a haemoglobinopathy (e.g., sickle cell disease). Most carriers are perfectly healthy, and many do not know they are carriers.
However, there can be very significant risks to the offspring of two carriers, including a lifelong dependency on monthly blood transfusions. At the worst end of the spectrum, it is not possible for the offspring of two carriers to survive a pregnancy (e.g., alpha thalassaemia major).
The Clinical Genomics Statewide Network team held a workshop involving nearly 30 key clinical stakeholders on April 7, entitled “Improving the Identification and Management of Haemoglobinopathies and Thalassaemia in Pregnancy”.
Identifying couples at risk is complicated by a multitude of factors and unfortunately often does not occur until a pregnancy has occurred, when time is of the essence. Identifying a carrier and then investigating her partner commonly involves multiple health professionals and laboratory processes. Results can be complicated and usually require expert interpretation. Genetic testing is required on both members of the couple if they are to have prenatal testing (e.g., amniocentesis or chorionic villus sampling).
The primary aim of identifying couples at risk of having a pregnancy affected by a severe thalassaemia or haemoglobinopathy is to offer them a diagnosis as early as possible in pregnancy, thereby giving them reproductive choice.
The workshop looked at all steps in the thalassaemia/haemoglobinopathy in pregnancy pathway, to identify concerns and areas for improvement. The key outcomes were:
- A consensus from stakeholders that this is an area of high clinical risk
- There are different processes at different Local Health Network’s which should be streamlined
- The need for a co-ordinated statewide approach, ideally with a statewide dedicated co-ordination team
- The need to identify ways to better identify couples at risk before they conceive
- The need to form a smaller representative stakeholder subgroup to meet regularly to progress this
Post workshop, the next step will be to form a core working group of 8 – 10 key stakeholders (e.g., genetics/adult and paediatric haematology/laboratory/midwives) to meet quarterly and action key points from the day, with the aim of improving the pathway for couples at risk.
To learn more about the Network, see Clinical Genomics.