Newborn Screening for G6PD Deficiency- Why is it Important for India?
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CLINICAL BRIEF Newborn Screening for G6PD Deficiency- Why is it Important for India? R. Kishore Kumar & Nandini Nagar & Enzo Ranieri Received: 12 September 2010 / Accepted: 19 March 2013 # Dr. K C Chaudhuri Foundation 2013 Abstract Neonatal screening, the most important preven- tive public health programme of the 21st century, is implemented in majority of the developed countries. The Asia-Pacific region has a long history—the late Emeritus Professor Wong Hock Boon in 1965 initiated cord blood G6PD screening in Singapore, which virtually eliminated kernicterus. In India currently there is no government funded neonatal screening programme for the masses, but most private hospitals have started screening for disorders which the pediatrician there thinks is relevant in that part of the country. Indian Council of Medical Research has established a task force to look into these and there have been numerous updates from them including an updated website where a pediatrician or a hospital can download information. The authors present this study, which reveals that G6PD in India is a high priority for public screening. Keywords Glucose-6-Phosphate Dehydrogenase (G6PD) . Neonatal Screening Programme (NSP) . Serum Bilirubin (SBR) . Phototherapy (PT) . Tandem Mass Spectrometry (TMS) Case Report A newborn baby boy was born to Gravida 2 mother who had delivered a healthy female baby 2 y back, weighing 2.80 kg born by normal delivery. This preg- nancy was uneventful and baby boy weighed 3.1 kg and had a blood group of A+ve. Mother ’ s blood group was also A+ve; Direct Coomb’ s test (DCT) was negative. Baby was discharged home on day 3 and the discharge serum bilirubin (SBR) was 6.5 mg/dL. Discharge weight was 2.73 kg, having lost only 0.07 kg (<5 %). Since the baby belonged to ‘low risk’ for hyper-bilirubinaemia as per international recommendations, the baby was advised to come for a follow up after 1 wk or earlier if there was concern or if moderate jaundice was noted. The baby was admitted on day 5 with a SBR of 21.0 mg/dL, which falls on the exchange transfusion level. The baby responded very well to phototherapy (PT) and SBR came down to 16.2 mg/dL within 12 h of triple PT with LED PT and to 8.0 mg/dL after 24 h of triple PT. The baby was discharged home and further investigations revealed the baby had Glucose-6-Phosphate Dehydrogenase (G6PD) de- ficiency, which accounted for the rapid raise in SBR and had the parents been not attentive, this baby could have easily landed up with kernicterus [1]. Discussion Newborn screening is not known to many medical profes- sionals—The recent survey in Bangalore District included 602 obstetricians, 209 pediatricians, 34 neonatologists, 223 nurses and 210 laymen. The results showed that majority of the obstetricians (79 %) were not aware of the neonatal screening programme [2]. The study conducted in California showed that improving communication by the state with R. Kishore Kumar (*) Department of Neonatology and Pediatrics, Cloudnine Hospitals, 1533, 3rd Block Jayanagar, 9th Main, Bangalore 560011, India e-mail: [email protected] R. Kishore Kumar Department of Neonatology and Pediatrics, Notre Dame University, Perth, Australia N. Nagar Department of Neonatology, Cloudnine Hospital, Jayanagar, Bangalore, India E. Ranieri Department of Biochemistry, Newborn Screening Lab, W&CH, Adelaide, Australia Indian J Pediatr DOI 10.1007/s12098-013-1017-8
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Transcript of Newborn Screening for G6PD Deficiency- Why is it Important for India?
CLINICAL BRIEF
Newborn Screening for G6PD Deficiency-Why is it Important for India?
R. Kishore Kumar & Nandini Nagar & Enzo Ranieri
Received: 12 September 2010 /Accepted: 19 March 2013# Dr. K C Chaudhuri Foundation 2013
Abstract Neonatal screening, the most important preven-tive public health programme of the 21st century, isimplemented in majority of the developed countries. TheAsia-Pacific region has a long history—the late EmeritusProfessor Wong Hock Boon in 1965 initiated cord bloodG6PD screening in Singapore, which virtually eliminatedkernicterus. In India currently there is no governmentfunded neonatal screening programme for the masses, butmost private hospitals have started screening for disorderswhich the pediatrician there thinks is relevant in that part ofthe country. Indian Council of Medical Research hasestablished a task force to look into these and there havebeen numerous updates from them including an updatedwebsite where a pediatrician or a hospital can downloadinformation. The authors present this study, which revealsthat G6PD in India is a high priority for public screening.
Keywords Glucose-6-Phosphate Dehydrogenase (G6PD) .
Neonatal Screening Programme (NSP) . Serum Bilirubin(SBR) . Phototherapy (PT) . TandemMass Spectrometry(TMS)
Case Report
A newborn baby boy was born to Gravida 2 motherwho had delivered a healthy female baby 2 y back,weighing 2.80 kg born by normal delivery. This preg-nancy was uneventful and baby boy weighed 3.1 kg andhad a blood group of A+ve. Mother’s blood group wasalso A+ve; Direct Coomb’s test (DCT) was negative.Baby was discharged home on day 3 and the dischargeserum bilirubin (SBR) was 6.5 mg/dL. Discharge weightwas 2.73 kg, having lost only 0.07 kg (<5 %). Sincethe baby belonged to ‘low risk’ for hyper-bilirubinaemiaas per international recommendations, the baby wasadvised to come for a follow up after 1 wk or earlierif there was concern or if moderate jaundice was noted.
The baby was admitted on day 5 with a SBR of21.0 mg/dL, which falls on the exchange transfusion level.The baby responded very well to phototherapy (PT) andSBR came down to 16.2 mg/dL within 12 h of triple PTwithLED PT and to 8.0 mg/dL after 24 h of triple PT. The babywas discharged home and further investigations revealed thebaby had Glucose-6-Phosphate Dehydrogenase (G6PD) de-ficiency, which accounted for the rapid raise in SBR and hadthe parents been not attentive, this baby could have easilylanded up with kernicterus [1].
Discussion
Newborn screening is not known to many medical profes-sionals—The recent survey in Bangalore District included602 obstetricians, 209 pediatricians, 34 neonatologists, 223nurses and 210 laymen. The results showed that majority ofthe obstetricians (79 %) were not aware of the neonatalscreening programme [2]. The study conducted in Californiashowed that improving communication by the state with
R. Kishore Kumar (*)Department of Neonatology and Pediatrics, Cloudnine Hospitals,1533, 3rd Block Jayanagar, 9th Main,Bangalore 560011, Indiae-mail: [email protected]
R. Kishore KumarDepartment of Neonatology and Pediatrics, Notre DameUniversity, Perth, Australia
N. NagarDepartment of Neonatology, Cloudnine Hospital, Jayanagar,Bangalore, India
E. RanieriDepartment of Biochemistry, Newborn Screening Lab, W&CH,Adelaide, Australia
Indian J PediatrDOI 10.1007/s12098-013-1017-8
public regarding newborn screening is going to make adifference to the implementation of the programme [3].
Once a country decides to implement screening—thenwhat to screen for? [4] We don’t have enough data to say thatwe need to screen for all disorders [4, 5]. Each country has tomake its own choice of which disorders they need to screen[6]. Some of the European countries screen for anywherebetween 6 and 8 disorders. Australia and USA are on the topof the list with screening for nearly 50 disorders includingTandem Mass Spectrometry (TMS). Philippines screens for 4common disorders in their country—hypothyroidism, con-genital adrenal hyperplasia, G6PD and Galactosemia. Chinahas jumped recently in making it mandatory for all the Obste-tricians and Pediatricians to provide the written information toall parents so that they can make informed choice.
Incidence of G6PD deficiency has been reported to varybetween 3 and 25 % in various parts of India due to variousreasons including ethnicity, different G6PD variants [7–9].The authors undertook a study to screen all the babies forG6PD deficiency on day 2. Bangalore being a cosmopolitancity—comprises of people from all over India. There were40 % of North Indians and 60 % South Indians in the indexstudy. (Any person from states of Karnataka, AndhraPradesh, Kerala, Tamil Nadu was considered as South Indi-an and rest were considered as North Indians). The authorshave screened 13,800 babies so far and have found 560babies who were found to be G6PD deficient on initialscreening and confirmatory tests revealed 559 were defi-cient with 1 found to be normal on repeat test. This babywas found to have had the Guthrie Card blood spot taken 15d before from a regional nursing home where the baby wasdelivered. G6PD being an enzyme gets denatured if theblood spot is left too long and that too dry in sun—thismay account for low values of G6PD.
In India ICMR has started pilot projects and recommen-dations from the pilot projects and results are listed on thewebsite: http://www.icmrmetbionetindia.org for all healthprofessionals to follow and even has some leaflets for com-mon disorders in many languages to be downloaded for use.Kaur et al. from Chandigarh have done screening for 3common disorders in India i.e., congenital hypothyrodism,congenital adrenal hyperplasia and G6PD deficiency andthey have found it worthwhile for these 3 disorders to bescreened- but it appears to be from one regional centrewhich can be having skewed data [10].
From the present study, there is no doubt that G6PDscreening fits into the criteria of the diseases that needto be screened in India as the incidence is too high toignore. Singapore has been screening for G6PD since1965 and has virtually eliminated kernicterus and itssequelae in their population. Unfortunately we don’t seem
to have the accurate incidence of Kernicterus in India and itssequelae, though there are some sketchy reports now and then.In the present study, incidence of G6PD deficiency was foundto be 4.05 % and false positives to be 1:13,800, which isacceptable since the false positives should not exceed theincidence of the disease. The incidence of G6PD deficiencywas found to be higher (6.5 %) in North Indians as comparedto 2.5 % in South Indians—which probably could be attribut-ed to the different genetic composition of the population andthis could account for various incidences in different studiesacross India [8–10].
Indian Academy of Paediatrics or National NeonatalForum should take initiative and make this mandatorythrough the government of India and SAVE our childrenfrom becoming statistics of Kernicterus. We have more than4 decades of data to say that we don’t need to “wait anylonger” to implement screening for G6PD deficiency inIndia with such high incidence [10] and practically couldhelp eliminate kernicterus from India.
Conflict of Interest None.
Role of Funding Source None.
References
1. Boon WH. Singapore kernicterus—the position in 1965. J Singa-pore Paediatr Soc. 1965;7:35–43.
2. Nagar N, Kumar KR. Challenges in implementation of universalneonatal screening in India: P56—poster presentation at NNF,Pune 13–16th Dec 2007.
3. Faulkner LA, Feuchtbaum LB, Graham S, Bolstad JP, CunninghamGC. The newborn screening educational gap: What prenatal careproviders do compared with what is expected. Am J Obstet Gynecol.2006;194:131–7.
4. Parashar Y. G6PD screening is it really required? Indian Pediatr.2010;47:451–2.
5. Verma IC, Bijarnia S. The burden of genetic disorders in India and aframework for community control. Community Genet. 2002;5:192–6.
6. Nair H. Neonatal screening program for G6PD deficiency in India:Need and feasibility. Indian Pediatr. 2009;46:1045–9.
7. Mohanty D, Mukherjee MB, Colah RB. Glucose-6-phosphate dehy-drogenase deficiency in India. Indian J Pediatr. 2004;71:525–9.
8. Bhasin MK. Genetics of castes and tribes of India: Glucose-6-phosphate dehydrogenase deficiency and abnormal haemoglobins(HbS and HbE). Int J Hum Genet. 2006;6:49–72.
9. Mehrotra V, Sharma A, Tiwari M. Glucose-6-phosphate dehydro-genase deficiency in the newborn in relation to neonatalhyperbilirubinaemia. Clin Biochem. 2011;44:537.
10. Kaur G, Srivastav J, Jain S, et al. Preliminary report on neonatalscreening for congenital hypothyroidism, congenital adrenal hy-perplasia and glucose-6-phosphate dehydrogenase deficiency: AChandigarh experience. Indian J Pediatr. 2010;77:969–73.
Indian J Pediatr
