G6PD deficiency; glucose 6 phosphate dehydrogenase deficiency; the case for mass screening in Pakistan

ABSTRACT

Hyperbilirubinemia due to glucose 6 phosphate dehydrogenase [G6PD] deficiency can cause permanent neurological damage and death in neonates. Screening for the enzyme enables timely diagnosis and treatment in cases of G6PD related kernicterus. Knowledge of patient G6PD status is also important in treatment of malaria, a disease endemic in Pakistan. World Health Organization recommends mandatoryuse of primaquine for radical cure and eradication of malaria. Since, Primaquine, causes hemolysis in G6PD deficient cases, widespread adoption of the drug is viewed with caution. This study assessed frequency of G6PD deficiency in Pakistani noenates and examines the need for its screening based on local disease prevalence and malaria endemicity. A cross sectional study was carried at Hematology Department, Army Medical College [MUST], in collaboration with Military Hospital, Rawalpindi, Pakistan.[January - August, 2011]. The frequency of G6PD deficiency in newborn population was determined by quantitative [spectrophotometric] method. Cord blood [2.5 ml blood in K3EDTA bottle] samples were obtained from 240 newborns [male female 1.21] after informed consent from parents. Data obtained was analyzed using SPSS Windows version 17. Frequency of G6PD deficient cases was 4.2%. Among the ten G6PD deficient patients, six had severe enzyme deficiency [<10% enzyme activity]. The local prevalence of G6PD deficiency and its potential complications qualify it as a disease that must be screened for. Also, prior knowledge of patient G6PD status enables the physician to revert to modified treatment regimen for malaria only in enzyme deficient cases and not otherwise