Document Type

Article

Department

Ophthalmology

Abstract

introduction b-thalassaemia is most common genetically transmitted disorder in Eastern Mediterranean region including Pakistan. Like other recessive disorders, prevalence increases through consanguinity; Pakistan Demographic and Health Survey reports 50% consanguineous marriages. Perceptions about consanguinity in our population have recently not been studied. Objectives were to determine consanguinity related characteristics among parents of children with thalassaemia and without thalassaemia visiting a major health centre in Karachi-Pakistan. To compare consanguinity practices among such families and to assess susceptibility, benefits and barriers towards thalassaemia. Methods Sample of 340 cases and 340 controls; age-sex matched were selected from February to April 2010. Parents of thalassaemic children and parents of non-thalassaemic children were interviewed after consent. Consanguinity related characteristics followed in families were inquired. Perceptions regarding susceptibility to thalassaemia, benefits and barriers to screening were determined. Conditional logistic regression used to calculate matched OR. Parents’ approaches towards index child were assessed. Results Compared to no cousin marriage, parents of thalassaemic children had more cousin marriages (MOR: 7.3, 95% CI 3.6 to 14.6), and grand-parents cousin marriage (MOR: 2.8, 95% CI 1.8 to 4.4) than controls, more cousin marriages occurred in immediate family in last 5 years of cases than controls (MOR: 2.7, 95% CI 1.7 to 4.3) adjusting for ethnicity defined by mother tongue. Among case parents, (51%) were taking index child to social events and only 21% were satisfied with attitudes of other’s towards index child. Conclusion Study supports hypothesis that among parents of thalassaemic (cases), practices and perceptions favouring consanguinity were greater as compared to parents of non-thalassaemic children (controls).

Publication (Name of Journal)

Journal of Epidemiology and Community Health

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