Screening extended families for a genetic X-linked disorder, glucose 6 phosphate dehydrogenase deficiency

ABSTRACT

To test an alternative approach to population based program for identifying Glucose 6 Phosphate Dehydrogenase [G6PD] deficient Individuals in Pakistan where consanguineous marriage is common. This study was conducted at Armed Forces Institute of Pathology Rawalpindi and Pathology Department Government Lady Reading Hospital Peshawar. Five large families from Northern Pakistan, 03 with an index case of G6PD deficiency, 02 without such history [control] were screened for G6PD deficiency. All apparently healthy members of the families, both male and female of all ages, of the last three generations were included in the study. A commercial qualitative screening kit from Sigma Chemical Co. Ltd England was used for screening the individuals for G6PD deficiency. In the control families, no individual with G6PD deficiency was found among 101 individuals tested out of 159 living members. In the 03 families with an index case of G6PD deficiency 155 were tested out of 229 family member and 52 [33.5%] were found G6PD deficient. While in population screening out of 800 apparently healthy adult male subjects screened for G6PD deficiency, 47 [5.9%] were found glucose 6 phosphate dehydrogenase deficient. Testing extended families is feasible and highly cost effective way of screening for X- linked genetic disorder like Glucose 6 Phosphate Dehydrogenase deficiency in communities in which consanguineous marriage is common