Carrier screening for Beta-thalassaemia: a review of international practice

Cousens, Nicole E; Gaff, Clara; Metcalfe, Sylvia; Delatycki, Martin B.

doi:10.1038/ejhg.2010.90

Cited by 180 publications

(185 citation statements)

References 56 publications

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“…A recent review of international practice of betathalassaemia carrier screening described a wide variety of programs in different countries that might be mandatory or voluntary, preconceptional or prenatal, and involve a broad range of education and counselling practices (Cousens et al 2010). Typically, preconceptional carrier screening is voluntary when it occurs in high schools and more often mandatory when applying for a marriage license (described as pre-marital screening) (Cousens et al 2010).…”

Section: Carrier Screening For Haemoglobinopathiesmentioning

confidence: 99%

“…Typically, preconceptional carrier screening is voluntary when it occurs in high schools and more often mandatory when applying for a marriage license (described as pre-marital screening) (Cousens et al 2010). These seem to be acceptable to the communities in which these approaches exist such as in Bahrain (Al Arrayed and Al Hajeri 2010) or in Malaysia where these might be implemented (Wong et al 2011a(Wong et al , 2011b.…”

Section: Carrier Screening For Haemoglobinopathiesmentioning

confidence: 99%

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Carrier screening in preconception consultation in primary care

Metcalfe

2011

J Community Genet

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Discussing carrier screening during preconception consultation in primary care has a number of advantages in terms of promoting autonomy and enabling the greatest range of reproductive choices. For those with a family history of an inherited condition, this ought to be a routine discussion; however, this can be expanded to include the wider population, especially for those conditions for which carrier frequencies are considered relatively common. There is published literature from around the world regarding experiences with carrier screening in primary care for cystic fibrosis, haemoglobinopathies, fragile X syndrome, Tay-Sachs disease and spinal muscular atrophy, although many of these have tended to focus on consultations during rather than before pregnancy. Overall, these studies reveal that population carrier screening is well received by the participants with apparent minimal psychosocial harms; however, challenges exist in terms of approaches to ensure couples receive adequate information to make personally relevant decisions and for ongoing health professional engagement.

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Section: Carrier Screening For Haemoglobinopathiesmentioning

confidence: 99%

Section: Carrier Screening For Haemoglobinopathiesmentioning

confidence: 99%

Carrier screening in preconception consultation in primary care

Metcalfe

2011

J Community Genet

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“…Thus, population carrier screening in Australia for genetic conditions such as cystic fibrosis and Tay-Sachs disease is usually offered through formal, coordinated programs (Gason et al 2003;Massie et al 2009). No such program exists for thalassaemia carrier screening (Cousens et al 2010).…”

mentioning

confidence: 99%

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

et al. 2013

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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'.

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“…In transfusion-dependent beta thalassaemia, where survival requires blood transfusion every 3-4 weeks from early life and regular chelation, there is a powerful stimulus to avoid such births (Cousens et al 2010). The clinical picture is totally different in families at risk of a baby with SS disease, where the outcome varies from death in the first year of life to survival to the age of 80 years and a median survival in Jamaica of 55 years (Wierenga et al 2001).…”

Section: Discussionmentioning

confidence: 99%

Prevention of sickle cell disease: observations on females with the sickle cell trait from the Manchester project, Jamaica

Mason¹,

Gibson²,

Gardner³

et al. 2015

J Community Genet

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Screening for haemoglobin genotype was offered to senior school students in Manchester parish in south central Jamaica to test whether this knowledge would influence choice of partner and reduce births with sickle cell disease. Over six academic years, 15,539 students, aged mostly 15-19 years, were screened with voluntary compliance rising from 56 to 92 % over this period. All subjects were given permanent genotype cards and carriers of abnormal genes were offered counselling which explained the reproductive options but avoided recommendations. Prior to screening, all had been offered illustrated lectures on the genetics and clinical features of sickle cell disease. The current study, confined to females with the sickle cell trait, interviewed 763/845 (90.3 %) subjects seeking to assess retention of this knowledge and their response to subsequent boyfriends. Of those interviewed, 42 subjects were excluded (38 emigrated, one died, three received incorrect genotype cards) leaving 721 with complete information. Knowledge of genotype was retained in 95 %, the outcome of future offspring correctly recalled in 91 %, and haemoglobin genotype cards were still possessed by 89 %. A current 'boyfriend' was acknowledged in 403 (56 %) of whom the partner's genotype was known in 88 (74 determined by the project laboratory; 14 by other laboratories) and unknown in 315 (78 %). Offers of free blood tests to all these partners were accepted by only 14 (4 %). Seventeen (2.4 %) were married but the husbands genotype was known in only five (four AA, one AS) of these. Most subjects retain knowledge of their genotype and of its significance for having affected children but the reluctance of partners to be tested was a major obstacle.

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Carrier screening for Beta-thalassaemia: a review of international practice

Cited by 180 publications

References 56 publications

Carrier screening in preconception consultation in primary care

Carrier screening in preconception consultation in primary care

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

Prevention of sickle cell disease: observations on females with the sickle cell trait from the Manchester project, Jamaica

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