“He didn’t say that thalassaemia might come up” — β-thalassaemia carriers’ experiences and attitudes

Abstract

Tests for haemoglobinopathy carrier status are the commonest genetic screening tests undertaken internationally. Carrier screening for β-thalassaemia is not coordinated in Victoria, Australia, and is instead incorporated into routine practice where most women are screened antenatally, through a full blood examination (FBE). Little is known about how women are screened for β-thalassaemia in Australia as well as their attitudes towards the screening process. This study was conducted to explore carriers' and carrier couples' experiences of and attitudes towards β-thalassaemia screening in Australia. Semi-structured interviews with 26 recently pregnant female carriers and ten carrier couples of β-thalassaemia were carried out. Interviews were analysed using inductive content analysis. Unexpectedly, more than half of the women had been made aware of their carrier status prior to pregnancy, with FBEs carried out for numerous reasons other than thalassaemia screening. Most women did not recall being told about thalassaemia before notification of their carrier status and therefore did not make a decision about being screened. They were generally accepting for doctors to decide about testing; however, would have preferred to have been made aware of the screening test. Women also reported receiving insufficient information after being notified of their carrier status, leading to misconceptions and confusion. This genetic screening process, incorporated into routine care whereby informed decisions were not being made by patients, was apparently acceptable overall. Based on the results of this study, we make the following recommendations: (1) individuals should be made aware that they are being tested for thalassaemia at least before a specific thalassaemia diagnostic test is performed; (2) current understanding by known carriers of thalassaemia should be assessed and any misconceptions corrected; (3) written information should be provided to carriers; (4) referral of carrier couples to specialists in thalassaemia and genetics is strongly recommended; (5) the term 'carrier of β-thalassaemia' should be used rather than 'thalassaemia minor'.

Responsible implementation of expanded carrier screening

“… 110 Consequently, thalassaemia carriers often misunderstand their status. 111 As testing becomes more common people will become aware that all individuals are carriers for a limited number of sequence variants and this may decrease anxiety. Efforts should be undertaken to promote programmes that enhance genetic knowledge of the public.…”

Prenatal β‐thalassemia carrier screening in Australia: healthcare professionals' perspectives of clinical practice

“…This is somewhat consistent with the expectations of carriers of β‐thalassemia, when describing their experiences of the prenatal screening process in Victoria, who did not necessarily expect to make a choice at the time of initial blood collection for the FBE. However, carriers did prefer to be told by their healthcare professional that they were undergoing screening at this point, whereas healthcare professionals expressed that this would be impractical as the FBE is performed for a number of reasons, with a multitude of possible results. However, given the increasing frequency of carriers as a result of migration patterns, questions about ethnic ancestry at the time of ordering the FBE might prompt mentioning FBE as part of a thalassemia, and indeed hemoglobinopathy, screen.…”

“…The views and practice of healthcare providers regarding carrier screening for β ‐thalassemia have not been documented, and an understanding of this is important in framing consistent guidelines and educational support. We have previously found that carriers were generally not aware they had undergone prenatal screening for thalassemia and were dissatisfied with the amount of information provided to them . Here, we obtain the perspectives of healthcare providers of prenatal, hematological, and genetics care in Victoria including their methods of practice regarding screening of women for β ‐thalassemia in a prenatal setting.…”

International perspectives on the implementation of reproductive carrier screening

“…Hemoglobinopathy screening was initially inconsistent, since it relied on red blood cell parameter testing. Nevertheless, the live birth prevalence of thalassemia dropped substantially after introduction of screening . Screening for hemoglobinopathy carrier status is government funded.…”

“…Nevertheless, the live birth prevalence of thalassemia dropped substantially after introduction of screening. 13 Screening for hemoglobinopathy carrier status is government funded.…”