Prevalence of glucose-6-phosphate dehydrogenase deficiency in neonates in Egypt

Abstract

BACKGROUNDGlucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked disorder which causes neonatal jaundice in most cases, and under certain conditions, can cause a spectrum of hemolytic manifestations.OBJECTIVETo determine the local prevalence of G6PD deficiency in newborns.DESIGNCross-sectional.SETTINGUniversity hospital.METHODSInfants born during 2015 were prospectively screened for G6PD deficiency. Dried blood spot samples on filter paper were collected in collaboration with the central laboratories of the Ministry of Health. Quantitative measurement of G6PD enzyme activity was measured from the blood samples using fluorometric analysis. A value ≤1.3 U/g hemoglobin (Hb) was considered G6PD deficient.MAIN OUTCOME MEASURE(S)G6PD enzyme activity (U/g Hb).RESULTSOf 2782 screened newborns (1453 males and 1329 females), 2646 (95.1%) newborns were normal, 17 (0.6%) exhibited intermediate deficiency; 119 newborns (91 male newborns; 28 female newborns) were deficient for G6PD for an overall prevalence of G6PD deficiency of 4.3% with a male:female ratio of 3.2:1. Enzyme activity was significantly higher in males than females (P<.014).CONCLUSIONThe overall prevalence of G6PD deficiency emphasizes the importance of neonatal screening for early detection and prevention together with proper intervention and genetic counseling.LIMITATIONLacked authority to collect the samples for testing directly from the local centers.

Prevalence of and mothers’ knowledge, attitude and practice towards glucose-6-phosphate dehydrogenase deficiency among neonates with jaundice: a cross-sectional study

“…Ultraviolet-kinetic method using cellular enzyme determination reagents by spectrophotometry was used to obtain a quantitative estimation of serum G6PD from 1 mL of whole blood collected in an EDTA tube. G6PD deficiency was defined as <4.6 g/L Hb 10. The neonates were subjected to phototherapy according to phototherapy guidelines for hospitalised infants from ≥35 weeks of gestation.…”

“…Based on a previous review of literature10 which reported an 8.9% prevalence of G6PD among newborns with jaundice with nearly the same inclusion and exclusion criteria as our study, the sample size was calculated using the following equation: n=(z 2 ×p×q)/D2, at 95% CI. The sample size was estimated to be 487 neonates with jaundice.…”

“…Haemolysis in patients with G6PD deficiency can be triggered by specific agents, including certain foods, drugs and infections 6. Avoiding the triggers and starting treatment early, including intensive phototherapy, to decrease the incidence of severe haemolysis are simple and inexpensive and can be started before the symptoms appear 8–10. Counselling with regard to avoiding the risks of jaundice and triggering agents should be directed to parents of deficient newborns 10.…”

“…Avoiding the triggers and starting treatment early, including intensive phototherapy, to decrease the incidence of severe haemolysis are simple and inexpensive and can be started before the symptoms appear 8–10. Counselling with regard to avoiding the risks of jaundice and triggering agents should be directed to parents of deficient newborns 10. G6PD deficiency is commonly known in Egypt as fava bean anaemia or favism (after intake of fava bean), as this enzyme deficiency increases the susceptibility of red blood cells to agents such as oxidants present in raw beans, some medications and oxidative stress caused by infections 11.…”

Dengue complicated by acute haemolysis, methaemoglobinemia, hepatitis and rhabdomyolysis in a patient with G6PD deficiency

“…In G6PD deficiency, haemolysis is usually triggered by exogenous agents. The G6PD gene is located in chromosome X and therefore its deficiency is more common in males than females 2 . Patients with G6PD deficiency can be clinically asymptomatic or present with neonatal jaundice or acute haemolytic anaemia 3 .…”