Iranian national thalassaemia screening programme

Samavat, Ashraf; Modell, Bernadette

doi:10.1136/bmj.329.7475.1134

Cited by 212 publications

(196 citation statements)

References 12 publications

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“…To our knowledge, this is the first study to examine the detection and prevention of at-risk marriages at a national level. Mandating the premarital screening for inherited hemoglobinopathies was long awaited in Saudi Arabia and was preceded by religious and scientific debate 17–20. In this highly conservative population, premarital screening in Saudi Arabia is practically the main preventive measures against inherited hemoglobinopathies 9.…”

Section: Discussionmentioning

confidence: 99%

Six-year outcome of the national premarital screening and genetic counseling program for sickle cell disease and β-thalassemia in Saudi Arabia

Memish

Saeedi

2011

Annals of Saudi Medicine

137

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BACKGROUND AND OBJECTIVES:Saudi Arabia has a high prevalence of hereditary hemoglobin disorders. Data has been collected by the Saudi Premarital Screening and Genetic Counseling Program on the prevalence of sickle cell disease and β-thalassemia but the outcomes were not quantified. We used six years of premarital screening data to estimate the burden of sickle disease and β-thalassemia over the program period and to assess the frequency of at-risk marriage detection and prevention.DESIGN AND SETTING:Retrospective review, premarital couples attending premarital and genetic counseling clinics with marriage proposals between 2004 and 2009.METHODS:Blood samples obtained from all couples with marriage proposals between 2004 and 2009 were tested for sickle cell disease and β-thalassemia. Test results were shared with all examinees and genetic counseling was offered for all at-risk couples. Marriage certificates were issued irrespective of the results and compliance with medical advice was voluntary.RESULTS:Out of all men and women examined, 70 962 (4.5%) and 29 006 (1.8%) were carriers or cases of sickle cell disease and β-thalassemia, respectively. While the prevalence of sickle cell disease was constant between 2004 and 2009 (average 45.1 per 1000 examined persons, P=.803), the prevalence of β-thalassemia steadily decreased from 32.9 to 9.0 per 1000 examined persons (P<.001). The frequency of at-risk couples decreased by about 60% between 2004 and 2009 (from 10.1 to 4.0 per 1000 examined persons, P<.001). The frequency of voluntary cancellation of marriage proposals among at-risk couples showed more than 5-fold increase between 2004 and 2009 (from 9.2% to 51.9%, P<.001). The eastern region had 58% of all detected at-risk marriages and showed the greatest decline in detection and increase in prevention over time compared to other regions of Saudi Arabia.CONCLUSION:Six years of premarital screening in Saudi Arabia markedly reduced the number of at-risk marriages, which may considerably reduce the genetic disease burden in Saudi Arabia in the next decades.

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Section: Discussionmentioning

confidence: 99%

Six-year outcome of the national premarital screening and genetic counseling program for sickle cell disease and β-thalassemia in Saudi Arabia

Memish

Saeedi

2011

Annals of Saudi Medicine

137

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“…The first focuses on the risk population and aims to reduce impairment levels by discouraging marriage between close blood relatives through promoting public awareness of the associated genetic risk. This strategy has been tried in the Middle East using media campaigns and teaching of health professionals (Samavat and Modell 2004) and in the UK as part of an outreach health promotion campaign that included a media campaign, leaflets, a video and schools roadshow (Haslam 2001). In both situations, this isolated policy of raising awareness had no detectable impact on marriage choices and prompted negative community reaction (Samavat and Modell 2004;Director, Heart of Birmingham PCT 2008, personal communication).…”

Section: Introductionmentioning

confidence: 99%

“…This strategy has been tried in the Middle East using media campaigns and teaching of health professionals (Samavat and Modell 2004) and in the UK as part of an outreach health promotion campaign that included a media campaign, leaflets, a video and schools roadshow (Haslam 2001). In both situations, this isolated policy of raising awareness had no detectable impact on marriage choices and prompted negative community reaction (Samavat and Modell 2004;Director, Heart of Birmingham PCT 2008, personal communication). The second strategy, a family-centred approach, focuses on identifying families at increased risk and provides them with genetic counselling and cascade genetic testing when feasible.…”

Section: Introductionmentioning

confidence: 99%

Examining the family-centred approach to genetic testing and counselling among UK Pakistanis: a community perspective

et al. 2012

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WHO advice suggests a family-centred approach for managing the elevated risk of recessively inherited disorders in consanguineous communities, whilst emerging policy recommends community engagement as an integral component of genetic service development. This paper explores the feasibility of the family-centred approach in the UK Pakistani origin community. The study took place within a context of debate in the media, professional and lay circles about cousin marriage causing disability in children. Using qualitative methods, a total of six single-sex focus group discussions (n050) were conducted in three UK cities with a high settlement of people of Pakistani origin. Tape-recorded transcripts were analysed using framework analysis. Kinship networks within Pakistani origin communities are being sustained and marriage between close blood relatives continues to take place alongside other marriage options. Study participants were critical of what was perceived as a prevalent notion that cousin marriage causes disability in children. They were willing to discuss cousin marriage and disability, share genetic information and engage with genetic issues. A desire for accurate information and a public informed about genetic issues was articulated whilst ineffective communication of genetic risk information undermined professionals in their support role. This study suggests a community that is embracing change, one in which kinship networks are still active and genetic information exchange is taking place. At the community level, these are conditions supportive of the family-centred approach to genetic testing and counselling.

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“…In practice, the effect is almost certainly smaller because (a) studies in other populations have shown that knowledge of carrier status prior to marriage has a relatively small effect on partner choice (Stamatoyannopoulos 1974;Angastiniotis and Hadjiminas 1981;Samavat and Modell 2004;Alhamdan et al 2007) and (b) in the Maldives the task of finding a non-carrier partner would be particularly challenging in view of the very high carrier prevalence and the limited number of possible partners in small island populations.…”

Section: Avoiding Marriage Between Carriersmentioning

confidence: 99%

“…The bottom curve shows a hypothetical maximum rate of fall (F=0.065, equivalent to 100% first cousins). The middle curve shows an intermediate rate when F=0.03, a relatively common value (Bittles 1990) An increasing demand for prenatal diagnosis emerged as the screening programme unfolded, and advocacy with governmental and religious authorities led to the release in 1999 of a fatwa permitting abortion for severe foetal abnormality (Firdous 2005), as earlier in Pakistan (Ahmed et al 2000) and Iran (Samavat and Modell 2004). A DNA laboratory is already functioning, and prenatal diagnosis will be routinely available when local obstetricians are able to provide chorionic villus sampling.…”

mentioning

confidence: 99%

Falling prevalence of beta-thalassaemia and eradication of malaria in the Maldives

2011

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Iranian national thalassaemia screening programme

Cited by 212 publications

References 12 publications

Six-year outcome of the national premarital screening and genetic counseling program for sickle cell disease and β-thalassemia in Saudi Arabia

Six-year outcome of the national premarital screening and genetic counseling program for sickle cell disease and β-thalassemia in Saudi Arabia

Examining the family-centred approach to genetic testing and counselling among UK Pakistanis: a community perspective

Falling prevalence of beta-thalassaemia and eradication of malaria in the Maldives

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