Spectrum of Hereditary Anomalies in Upper Punjab, Pakistan

Abstract

Genetic disorders are common in the Pakistani population. In developing world including Pakistan,epidemiological studies on genetic disorders are deficient, because they lack both sources, extended time to monitor and attention. The present study, carried out in Mianwali district of Punjab, was an effort to document the commonly occurring hereditary disorders in this population, to establish their prevalence, and to observe their association with different socio-demographic variables. A questionnaire-based data collection approach was adopted and subjects/families with certain types of genetic/hereditary anomalies were randomly recruited from different tehsils of Mianwali district. Overall, 257 families were ascertained during this study. Among the index subjects, males were 80% and females were 20%. The contribution of familial cases was 51% and sporadic cases were 49%. About 67% of the index subjects belonged to rural areas and 95% of them were Saraiki speaking. The prevalence of anomalies was higher among the subjects belonging to middle socio-economic status (68%). Affected subjects ranging in age 10-19 years were higher in number. Index subjects were mostly belonging to Awan caste, followed by Niazi. About 60% of the subjects were literate. Most of the index subjects belonged to extended family type (67%), while the remaining belonged to nuclear family type. In the present study, parental consanguineous marriages were observed to be in 84% of the cases. Genetic disorders prevailing in the recruited families were classified in fourteen major entities. Most common disorders were affecting the central nervous system (27%); second most prevalent anomalies were ear associated (23%) and musculoskeletal anomalies (23%), followed by neuromuscular defects (10%), and visual defects (6%). Index persons mostly belonged to first parity (48%). In 59% of familial cases, the malformation segregated in only one generation (79%), and there were two sibships were affected most often. This study presents a comprehensive epidemiological account of genetic disorders prevalent in Minawali district. These types of studies can be helpful in management of diseases and can draw attention of policy makers toward the impact of genetic and hereditary anomalies on the Pakistani population.