Abstract

Asif Raheem*, Hamayun Khan, Dr. Zainab Zia Geoffery, Moon Sajid, Neelam Fatima and Imrana Niaz

ABSTRACT

Glucose 6-phosphate dehydrogenase (G6PD) plays an important functional role in the pentose phosphate pathway specifically in red blood cells (RBCs). G6PD deficiency is an X-linked single genetic disorder which is very common in human neonates especially in males. Infants with G6PD deficiency show a high level of hyperbilirubinemia that may lead to permanent neurological defects. Affected babies require intensive medical care and their mortality rate is 4%. Prevalence of G6PD deficiency in the local community of Quetta, Pakistan has been analyzed. Neonates born in or admitted in Bolan Medical Complex, Quetta, Pakistan from January-2018 to December-2018 has been screened for G6PD deficiency by the help of Met-hemoglobin reduction test (MRT). An overall prevalence of 10.1% has been documented with the highest percentage in male babies (14.5%) than females (5.0%). Among five different local ethnic groups, a higher percentage of affected babies have been noted for Baloch, Pashtun and Afghan Refugees with 10.3, 11.1 and 10.1% respectively. High prevalence among these populations indicates the need for urgent attention about the screening of newborns so that complex medical conditions can be managed in time. Along with this, it is need of the time to design a large scale molecular studies so that underlying mutations can be identified and a genetic map can be constructed for the local community.