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Hum Hered. 2014;77(1-4):207-16. doi: 10.1159/000362598. Epub 2014 Jul 29.

Consanguinity and prevalence patterns of inherited disease in the UK Pakistani community.

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Bradford Institute for Health Research, Bradford Royal Infirmary, Bradford, UK.



The aim of this paper is to describe the current knowledge about inherited diseases in UK children of Pakistani origin, who now number over 300,000, and to investigate disease associations with parental consanguinity.


Published data on the overall prevalence of inherited diseases were reviewed in conjunction with published and unpublished information from the city of Bradford where there is a large resident Pakistani community.


There is significant literature on infant mortality, congenital anomalies, disabilities and many clinical conditions, often drawing attention to ethnic variations and an increased disease prevalence in UK Pakistani children. A further analysis is frequently necessary to differentiate both between genetic and non-genetic causes, and Pakistani and non-Pakistani children, who collectively have been labelled as 'Asian' or 'South Asian'.


The analysis suggests that much of the increased mortality and morbidity in UK Pakistani children is due to autosomal recessive conditions. Evidence suggests that this finding is associated with the custom of consanguineous marriage, but future studies might also explore the role of community endogamy. Prevalence data from the first and second post-migration generations could additionally be useful in informing health planning in Pakistan.

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