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 Table of Contents  
Year : 2015  |  Volume : 59  |  Issue : 2  |  Page : 145-148  

Newborn screening for G6PD deficiency: A 2-year data from North India

1 Senior Research Officer, Department of Paediatrics, Division of Genetics and Metabolism, Maulana Azad Medical College, New Delhi, India
2 Senior Research Fellow, Department of Paediatrics, Division of Genetics and Metabolism, Maulana Azad Medical College, New Delhi, India
3 DNB Trainee Gastroenterology, Sir Ganga Ram Hospital, New Delhi, India
4 PhD Scholar, Department of Paediatrics, Division of Genetics and Metabolism, Maulana Azad Medical College, New Delhi, India
5 Director and Professor, Department of Neonatology, Maulana Azad Medical College, Lok Nayak Hospital, New Delhi, India
6 Professor, Department of Paediatrics, Division of Genetics and Metabolism, Maulana Azad Medical College, New Delhi, India

Date of Web Publication25-May-2015

Correspondence Address:
Seema Kapoor
Professor, Department of Pediatrics, Division of Genetics and Metabolism, Maulana Azad Medical College, New Delhi
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0019-557X.157537

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Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common erythrocyte enzymopathy, being present in more than 400 million people worldwide that may lead to neonatal jaundice or hemolytic crisis due to drugs or infections. In our study, we aimed to study the frequency of G6PD deficiency in neonates and the proportion of deficient neonates, who developed neonatal hyperbilirubinemia in the study population. The study was an observational one, conducted at the Division of Genetics of Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, over a 2-year period from January 2011 to December 2012. A total of 6,000 newborns delivered during that period underwent newborn screening on 24-72 h of birth. Neonatal hyperbilirubinemia was presented in 13.3% of the study population. Of female neonates, 16% demonstrated G6PD deficiency. This is worth noting for an X-linked recessive trait. Thus, in view of a high gene frequency for a disorder that is manageable with just elimination of few drugs and foodstuff, we stress the need for a newborn screening program for G6PD deficiency.

Keywords: Glucose-6-phosphate dehydrogenase (G6PD) deficiency, hemolytic crisis, neonatal hyperbilirubinemia, newborn screening

How to cite this article:
Goyal M, Garg A, Goyal MB, Kumar S, Ramji S, Kapoor S. Newborn screening for G6PD deficiency: A 2-year data from North India. Indian J Public Health 2015;59:145-8

How to cite this URL:
Goyal M, Garg A, Goyal MB, Kumar S, Ramji S, Kapoor S. Newborn screening for G6PD deficiency: A 2-year data from North India. Indian J Public Health [serial online] 2015 [cited 2022 Aug 9];59:145-8. Available from:

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common erythrocyte enzymopathy, being present in more than 400 million people worldwide. [1] Its incidence is different in different ethnic groups. Though the exact incidence in India is not known, various studies have reported an incidence ranging 2-27% in different communities in India. [2] Thirteen biochemically characterized variants have been reported from India. In India, G6PD Mediterranean (563 C > T) is the most common variant seen among the Vataliya Prajapatis of North India and the Parsis, [3] followed by G6PD Kerala-Kalyan (949 G > A) reported from Maharashtra, Kerala, Andhra Pradesh, Tamil Nadu, and Punjab; and G6PD Odisha. G6PD (131 C->G) found in the tribals of central, Eastern and Southern India. G6PD Mediterranean is the most severe variety.

G6PD deficiency is an X-linked (Xq28) recessive genetic disorder. G6PD is a cytoplasmic enzyme in the pentose monophosphate pathway and catalyzes the conversion of nicotinamide adenine dinucleotide phosphate (NADP) to its reduced form, NADPH. It helps to protect the red blood cells (RBCs) from oxidative damage. [4] Individuals with G6PD deficiency have a selective advantage against falciparum malaria; hence, the change must have been a protective change in areas with high malaria load. G6PD deficiency can lead to an increased risk and earlier onset of neonatal hyperbilirubinemia, or may present later in life with acute hemolytic crises. Intermittent exacerbations of acute intravascular hemolysis occur after exposure to certain drugs like antimalarial or sulfonamides, foodstuffs like fava beans, or with infections such as viral respiratory infection, hepatitis, and bacterial pneumonia. In certain populations, hyperbilirubinemia secondary to G6PD deficiency results in an increased risk of kernicterus and death, whereas in others, this has not been observed. [5] This may reflect mutations that are specific to ethnicity, altering the susceptibility to develop kernicterus. The explanation for the higher frequency of clinical manifestations of G6PD deficiency in the neonatal period is due the limited capacity of the neonatal liver to metabolize and eliminate bilirubin, and the limited capacity of the RBCs of the neonate to withstand oxidative stress. The mechanism by which G6PD deficiency causes neonatal hyperbilirubinemia may be due to hemolysis, but other mechanisms like secondary impairment of bilirubin conjugation and clearance by the liver may play a role. There is a paucity of data evaluating the G6PD deficiency in neonates in North India. In our study, we aimed to study the frequency of G6PD deficiency in neonates and its role in neonatal hyperbilirubinemia in the study population.

This was an observational study on a total of 6,000 newborns delivered from January 2011 to December 2012. Permission for the study was taken from the institution's Ethics Committee. Informed consent was taken from the parents. All consecutive newborns were screened at 24-72 h of birth. None were excluded except for those who expired before 24 h of life or those who did not give consent for the sampling. None of the newborns were transfused in the 1st 24 h that would have led to false value from the donor blood, leading to exclusion in the study period. Dried blood spots were collected by the heel prick testing method on the blood sample collection card (Whatman 903 S & S, GE Healthcare) and analyzed by time-resolved fluoroimmunoassay using Flurometer (Perkin Elmer). The principle of the test was that blood spot was allowed to react with the substrate [glucose 6-phosphate (G-6-P) + NADP + ] for 30 min at an ambient temperature. Fluorescence was measured using an excitation wavelength of 355 nm and an emission wavelength of 460 nm. On screening, those testing deficient (G6PD <2.2 U/g) were subjected to confirmatory testing using enzyme kinetics on RBC lysate. Those confirmed were called and counseled regarding the deficiency and provided with information booklets, including a list of all the hemolytic triggers, frequency of follow-ups, and the need for regular consultation. Clinical examination and bilirubin level were elucidated in all the deficient newborns. In the absence of visual appearance of hyperbilirubinemia, it was unethical to sample the neonates and a trained senior person supervised the neonates daily for clinical appearance of jaundice. Those showing evidence of hemolysis in the form of a raised reticulocyte count (>6%) or features of hemolysis on peripheral blood smear examination were subjected to a screening at 120 days if the initial G6PD testing was negative to ensure that enough senescent RBCs were present to eliminate the chances of a false negative test. Hyperbilirubinemia was classified as pathological, depending upon the American Academy of Pediatrics charts, utilizing serum bilirubin, postnatal age, and birth weight. [6]

In our study, 270 neonates were detected with deficient G6PD levels out of 6,000 neonates on first screening. Out of the 270 neonates, four were shifted to another hospital and could not be followed up, and one died before repeat sampling. Finally, 90 (1.5%) neonates were diagnosed as G6PD deficient by confirmatory testing, using enzyme kinetics on RBC lysate. In our study, out of the 90 deficient neonates, 76 were males while 14 were females. In our study, the ratio of male to female G6PD deficient neonates was 5.4:1. The attrition was just 2%, giving evidence of the fact that pretest counseling was effective and there was practically no dropout. In the present study, 12 (13.3%) out of 90 G6PD deficient neonates developed hyperbilirubinemia on clinical and biochemical examinations. These neonates did not have any other cause of neonatal hyperbilrubinemia, like ABO incompatibility. Aggressive phototherapy was instituted as presymptomatic diagnosis was made and none of the neonates in the hyperbilirubinemia group developed evidence of bilirubin-induced brain damage [Table 1].
Table 1: Demographic characteristics of G6PD defi cient neonates

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Feasibility and coverage in our study were quite similar to the previous studies conducted by other scholars. [Table 2] summarizes the previous studies and depicts a high incidence of G6PD deficiency in India. [7],[8],[9],[10],[11],[12]
Table 2: Demonstrating Indian studies with prevalence and recommendations with a newborn screening program

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In our study, the ratio of male to female G6PD deficient neonates was 5.4:1. A report from a tertiary care hospital in New Delhi found 50 (6.17%) out of 810 G6PD deficient cases, among whom 32 (3.95%) were males and 18 (2.22%) were females. [13] In another study of West Bengal, the ratio of male to female G6PD deficient neonates was 1:1 (15.8%:15%), [12] whereas in a similar study conducted in the Vataliya Prajapati community in Western India, the ratio was 3:1. [14] In our study, 36 (40%) out of 90 neonates with deficient G6PD were low birth weight babies. We were unable to collect the data of the gestational age. A study conducted in West Bengal showed no significant relationship between G6PD deficiency and birth weight and gestation. [12] In the present study, 12 (13.3%) out of 90 G6PD deficient babies developed hyperbilirubinemia on clinical and biochemical examinations. We had excluded other causes of hyperbilirubinemia like ABO and Rh incompatibilities, sepsis, or Crigler-Najjar syndrome in those babies.

Thus, we observed that period prevalence of G6PD deficiency was 1.5% in the cohort delivering with us. G6PD deficiency, being an X-linked recessive disorder, is expected to be rare in females; however, in our study, it was found in 16% of the females. Previously published studies also recommend and give stress upon this fact that we need to implement a universal screening program for this disease [Table 2]. G6PD deficiency is currently considered in neonates who develop hyperbilirubinemia within the first 24 h of life, those who have a history of jaundice in a sibling, and who have bilirubin levels greater than the 95th percentile. These may be the indicators, but G6PD may remain silent; hence, it is to be emphasized that the screening should be universal. The only way to avoid the adverse outcomes is to recognize such children early on in life and prevent exposure to agents that can trigger hemolysis.

This disorder also follows the criteria for screening laid down by Wilson and Jungner in 1962 for the implementation of newborn screening. It is sufficiently common, has a robust diagnostic test, if undetected can lead to adverse consequences of hemolysis and renal shut down, and can be managed with ease. The cost-effectiveness can easily be extrapolated for this disease that does not require active management in a resource-constraint setting. Since the collection is on a filter paper, transport is easy and this eliminates the need for in-house evaluation. Regional centers, rather than multiple laboratories, across the country may serve the purpose. We emphasize the need for a newborn screening program for G6PD deficiency as an important public health perspective. Though there may be competing priorities for health budget allocation, its frequency and disastrous sequalae make it an important candidate disorder, specifically being a disease that requires no long-term cost for management. Till such program is initiated, neonates must be closely observed to detect hyperbilrubinemia to avoid untoward effects.

   Acknowledgement Top

We are grateful to Dr. A.P. Dubey, Director and Professor, Department of Paediatrics, Maulana Azad Medical College, New Delhi whose cooperation made this study possible.

   References Top

Frank JE. Diagnosis and management of G6PD deficiency. Am Fam Physician 2005;72:1277-82.  Back to cited text no. 1
Mohanty D, Mukherjee MB, Colah RB. Glucose-6-phosphate dehydrogenase deficiency in India. Indian J Pediatr 2004;71:525-9.  Back to cited text no. 2
Pao M, Kulkarni A, Gupta V, Kaul S, Balan S. Neonatal screening for glucose-6-phosphate dehydrogenase deficiency. Indian J Pediatr 2005;72:835-7.  Back to cited text no. 3
Fico A, Paglialunga F, Cigliano L, Abrescia P, Verde P, Martini G, et al. Glucose-6-phosphate dehydrogenase plays a crucial role in protection from redox-stress-induced apoptosis. Cell Death Differ 2004;11:823-31.  Back to cited text no. 4
Mezzacappa MA, Facchini FP, Pinto AC, Cassone AE, Souza DS, Bezerra MA, et al. Clinical and genetic risk factors for moderate hyperbilirubinemia in Brazilian newborn infants. J Perinatol 2010;30:819-26.   Back to cited text no. 5
American Academy of Pediatrics Subcommittee on Hyperbilirubinemia. Management of hyperbilirubinemia in the newborn infant 35 or more weeks of gestation. Pediatrics 2004;114:297-316.  Back to cited text no. 6
Dash S, Chhanhimi L, Chhakchhuak L, Zomawaia E. Screening for haemoglobinopathies and G6PD deficiency among the Mizos of Mizoram: A preliminary study. Indian J Pathol Microbiol 2005;48:17-8.  Back to cited text no. 7
Nair H. Neonatal screening program for G6PD deficiency in India: Need and feasibility. Indian Pediatr 2009; 46:1045-9.  Back to cited text no. 8
Choubisa SL. Sickle cell haemoglobin, thalassaemia and G-6-PD enzyme deficiency genes in Garasiya tribe inhabited malaria endemic areas of Sirohi District, Rajasthan (India). J Commun Dis 2009;41:13-8.  Back to cited text no. 9
Kaur G, Srivastav J, Jain S, Chawla D, Chavan BS, Atwal R, et al. Preliminary report on neonatal screening for congenital hypothyroidism, congenital adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency: A Chandigarh experience. Indian J Pediatr 2010;77:969-73.  Back to cited text no. 10
Balgir RS. Genetic diversity of hemoglobinopathies, G6PD deficiency, and ABO and Rhesus blood groups in two isolates of a primitive Kharia Tribe in Sundargarh District of Northwestern Orissa, India. J Community Genet 2010;1:117-23.  Back to cited text no. 11
Bisoi S, Chakraborty S, Chattopadhyay D, Biswas B, Ray S. Glucose-6-phosphate dehydrogenase screening of babies born in a tertiary care hospital in West Bengal. Indian J Public Health 2012;56:146-8.  Back to cited text no. 12
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Sharma M, Dass J, Dhingra B, Saxena R. G6PD deficiency in females screened at tertiary care hospital. Indian J Pathol Microbiol 2011;54:850-1.  Back to cited text no. 13
[PUBMED]  Medknow Journal  
Joshi SR, Patel RZ, Patel HR, Sukumar S, Colah RB. High prevalence of G6PD deficiency in Vataliya Prajapati Community in western India. Haematologia (Budap) 2001;31:57-60.  Back to cited text no. 14


  [Table 1], [Table 2]

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