Strategies for the prevention of hereditary diseases in a highly consanguineous population
| Autor: | Meyer Bf |
|---|---|
| Rok vydání: | 2005 |
| Předmět: |
Male
Aging medicine.medical_specialty Pediatrics Physiology Epidemiology Genetic counseling Population Saudi Arabia Genetic Counseling Prenatal diagnosis Disease Consanguinity Pregnancy Intervention (counseling) Genetics medicine Humans Genetic Testing Intensive care medicine education education.field_of_study business.industry Incidence (epidemiology) Genetic Diseases Inborn Public Health Environmental and Occupational Health Genetics Population Hereditary Diseases Female business |
| Zdroj: | Annals of Human Biology. 32:174-179 |
| ISSN: | 1464-5033 0301-4460 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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