Indian Pediatr 2010;47:
G6PD Screening: Is it Really Required?
Consultant Pediatrician, Holy Family Hospital, New Delhi
The author recommends a universal neonatal screening program for
glucose-6-phosphate dehydro-genase (G6PD) deficiency in India because it
is common and causes significant morbidity and mortality due to neonatal
jaundice and acute hemolytic crisis(1). Since neonatal jaundice is the
commonest presentation of G6PD deficiency, the screening test result and
the definitive quantitative test result has to be available and
communicated to parents very early to be of any use. Even if G6PD
deficiency is detected, the parents will be advised that their newborn
baby is at risk for neonatal jaundice, and should be brought early to
hospital if he becomes yellow. We should anyway be giving this advice all
newborns at discharge. The management of a G6PD deficient newborn with
jaundice is the same as that for any other baby with neonatal jaundice.
Acute hemolytic crisis is highly unpredictable and is
usually seen after infections or accidental ingestion of chemicals or
drugs. Majority of persons with G6PD deficiency never experience a crisis
in their whole life. Advice to avoid drugs and chemicals will be of no use
in infection induced hemolysis or accidental ingestions, which are more
When we communicate news of G6PD deficiency to parents;
we might cause a lot of anxiety in the family. The majority of G6PD
deficient persons will not have any clinically significant problem, and we
will not be offering any preventive or curative therapy. We should analyze
what benefit is offered to patients by detecting them to be G6PD deficient
before recommending a nationwide G6PD detection program. That it can be
done does not imply it should be done.
1. Nair H. Neonatal screening program for G6PD deficiency in India:
need and feasibility. Indian Pediatr 2009; 46: 1045-1049.
Indian Institute of Public Health,
Plot No. 34, Sector 44, Institutional Area, Gurgaon.
The purpose of a screening program is to identify individuals not
identified by routine physical examination. Presently, approximately half
of all childbirths in India occur at home, and a significant proportion of
all institutional deliveries are not attended by a pediatrician. Hence the
quality of advice at discharge of the newborn is highly variable. In the
absence of targeted advice to parents from trained counsellors, the risk
of G6PD deficient infants suffering from pathological jaundice and
kernicterus remains very high. Other countries in South Asia (Malaysia,
Philippines, Taiwan, Hong Kong and Singapore) with a high prevalence of
G6PD deficiency have been able to reduce the morbidity and mortality
associated with this enzymopathy during the neonatal period and in later
life after the introduction of a neonatal screening program(1).
The drugs and chemicals triggering haemolytic crises
are used commonly (over the counter or prescription), and the risk of
exposure to these triggers later in childhood or adult life is very high.
Targeted advice to those identified by neonatal screening, though not
completely eliminating the risk of accidental exposure, will substantially
reduce the episodes of hemolytic crisis in these individuals. The cost of
introducing the screening program can be easily justified by the savings
in the medical care as a whole for these patients. Regarding the issue of
anxiety and distress to the family and patient, the benefits from being
watchful and avoiding all triggers outweigh the psychological harm.
1. Padilla CD, Therrell BL. Newborn screening in the
Asia Pacific region. J Inherit Metab Dis 2007; 30: 490-506.
2. Gray JAM. New concepts in screening. Br J Gen Pract 2004; 54;