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Strategies for the prevention of hereditary diseases in a highly consanguineous population

Bibliographic Data

ID14679657
AuthorsBrian F Meyer (0000-0002-0388-9568, King Faisal Specialist Hospital & Research Centre, corresponding author)
Year2005
Volume32
Issue2
Pages174-179
Publication date2005-03-01
Peer ReviewedYes
Open AccessYes
TypeARTICLE
VenueAnnals of Human Biology (JOURNAL)
Journal identifiersISSN: 0301-4460 • E-ISSN: 1464-5033
PublisherInforma UK Limited (PUBLISHER • GB)
DOI10.1080/03014460500075217
PMID16096214
OpenAlexW2044454094
LanguageEN
Citations received5
References cited11

Autosomal recessive hereditary diseases are relatively common in the Saudi population. The consanguinity rate is in excess of 50% and is a practice that remains strongly embedded within Saudi culture. The impact of this practice is recognized and is being addressed. Early detection and treatment of diseases can reduce mortality and minimize morbidity. This is the basis of successful neonatal screening for inborn errors of metabolism where treatment or modification of lifestyle can modulate disease. Ultimately, understanding the genetics of these diseases will provide opportunities for prevention. Options such as prenatal screening can be used to reduce the incidence of live births with inherited diseases. However, prenatal diagnosis and associated intervention is unacceptable to wide sections of all societies. Carrier detection and genetic counselling programmes have been very successful in reducing the incidence of inherited disorders in many populations. These programmes are most successful when they are sensitive to the cultural backgrounds of populations in which they are applied. In Saudi society, premarital screening to identify carrier status and the provision of appropriate counselling has tremendous potential to prevent inherited disease

Biology · Consanguinity · Disease · Environmental health · Fetus · Genetic counseling · Hereditary Diseases · Newborn screening · Pathology · Population · Pregnancy · Prenatal diagnosis · Psychiatry · Folate and B Vitamins Research · Genomics and Rare Diseases · Medicine · Metabolism and Genetic Disorders · Genetics · Pediatrics

  • Effects of a Formal Training Programme on Consanguineous Marriages on High School Students' Knowledge and Attitudes

    Open Access•Ahmet Nesimi Kisioglu, AHMET RIFAT ORMECI et al.•Journal of Biosocial Science•2010

  • Consanguineous marriages

    Open Access•Hanan Hamamy•Journal of Community Genetics•2011

  • Knowledge and Perception of and Attitude toward a Premarital Screening Program in Qatar

    Open Access•Mashael Al‐Shafai, Mashael Al-Shafai et al.•International Journal of…•2022

  • Health beliefs of unmarried adult Saudi individuals toward safe marriage and the role of premarital screening in avoiding consanguinity

    Open Access•Reem M Alwhaibi, Afrah Almuwais et al.•Frontiers in Public Health•2024

  • Autism in Saudi Arabia

    Open Access•Saleh M Al-Salehi, Elham H Al-Hifthy et al.•Transcultural Psychiatry•2009

Unique citing works5
Citations per year0,29
Citation span2009 - 2024 (16)
Citation velocityrecent
Highly citedNo
Citation typesNeutral: 4

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