FINE MAPPING OF GLUCOSE 6 PHOSPHATE DEHYDROGENASE (G6PD) DEFICIENCY IN RURAL AREA OF SOUTH WEST ODISHA USING THE CLINICAL, HEMATOLOGICAL AND MOLECULAR APPROACH

Main Article Content

Ravindra Kumar
MPSS Singh
Soumendu Mahapatra
Sonam Chourasia
Malay Kumar Tripathi
John Oommen
Praveen Kumar Bharti
Rajasubramaniam Shanmugam
(*) Corresponding Author:

Abstract

Introduction: The aim of the study was to enumerate the clinical, hematological and molecular spectrum of G6PD deficiency in malaria endemic regions of south west Odisha.


Methods: Diagnosis of G6PD deficiency was made by using the Di-chloroindophenol Dye test in from two south west districts (Kalahandi and Rayagada) of Odisha State. Demographic and clinical history was taken from each individual using a pre-structured questionnaire. Molecular characterization of G6PD deficiency was done using PCR-RFLP and Sanger sequencing.


Results:  A total of 1981 individuals were screened, out of which 59 (2.97%) individuals were found G6PD deficient. Analysis revealed that G6PD deficiency was more in males (4.0%) as compared to females (2.3%). G6PD deficiency was significantly higher in tribal population (4.8%) as compared to non-tribal populations (2.4%) (p=0.012, OR=2.014, 95%CI =1.206-3.365). Individuals with history of malaria and G6PD deficiency have high risk of need of blood transfusion than G6PD normal individuals (p=0.026, OR=3.816, 95%CI=1.079-13.496). Molecular analysis revealed G6PD Orissa as the most common (88%) mutation 88% in the studied cohort. G6PD Kaiping (n=3), G6PD Coimbra (n=2) and G6PD Union (n=1) were also identified in studied cohort. 


Conclusion: The cumulative prevalence of G6PD deficiency the present is below the estimated national prevalence. G6PD deficiency was higher in tribes as compared to non-tribes. Rare G6PD Kaiping and G6PD Union variants have been identified.


Downloads month by month

Downloads

Download data is not yet available.

Article Details

References

1. Nkhoma ET, Poole C, Vannappagari V, Hall SA, Beutler E. The global prevalence of glucose-6-phosphate dehydrogenase deficiency: a systematic review and meta-analysis. Blood Cells Mol Dis. 2009;42:267-78.
2. Kumar P, Yadav U, Rai V. Prevalence of glucose-6-phosphate dehydrogenase deficiency in India: An updated meta-analysis. Egyptian Journal of Medical Human Genetics. 2016;17:295-302.
3. Verma IC, Bijarnia S. The burden of genetic disorders in India and a framework for community control. Community Genet. 2002;5:192-6.
4. Luzzatto L, Nannelli C, Notaro R. Glucose-6-Phosphate Dehydrogenase Deficiency. Hematol Oncol Clin North Am. 2016;30:373-93.
5. Mbanefo EC, Ahmed AM, Titouna A, Elmaraezy A, Trang NT, Phuoc Long N, Hoang Anh N, Diem Nghi T, The Hung B, Van Hieu M, Ky Anh N, Huy NT, Hirayama K. Association of glucose-6-phosphate dehydrogenase deficiency and malaria: a systematic review and meta-analysis. Sci Rep. 2017;7:45963.
6. Watson J, Taylor WR, Menard D, Kheng S, White NJ. Modelling primaquine-induced haemolysis in G6PD deficiency. Elife. 2017;6.
7. Fanello CI, Karema C, Avellino P, Bancone G, Uwimana A, Lee SJ, d'Alessandro U, Modiano D. High risk of severe anaemia after chlorproguanil-dapsone+artesunate antimalarial treatment in patients with G6PD (A-) deficiency. PLoS One. 2008;3:e4031.
8. National Vector Born Disease Control Program. Malaria Situation in India. 2017.
9. Sahu SS, Gunasekaran K, Raju HK, Vanamail P, Pradhan MM, Jambulingam P. Response of malaria vectors to conventional insecticides in the southern districts of Odisha State, India. Indian J Med Res. 2014;139:294-300.
10. Kaeda JS, Chhotray GP, Ranjit MR, Bautista JM, Reddy PH, Stevens D, Naidu JM, Britt RP, Vulliamy TJ, Luzzatto L. A new glucose-6-phosphate dehydrogenase variant, G6PD Orissa (44 Ala-->Gly), is the major polymorphic variant in tribal populations in India. Am J Hum Genet. 1995;57:1335-41.
11. 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.
12. Balgir RS, Dash BP, Murmu B. Blood Groups, Hemoglobinopathy and G-6-PD Deficiency Investigations Among Fifteen Major Scheduled Tribes of Orissa, India. The Anthropologist. 2004;6:69-75.
13. Beutler E, Blume KG, Kaplan JC, Löhr GW, Ramot B, Valentine WN. International Committee for Standardization in Haematology: recommended methods for red-cell enzyme analysis. Br J Haematol. 1977;35:331-40.
14. WHO. Last accessed date: 2019 12 May 2019. Available from: https://apps.who.int/iris/bitstream/handle/10665/85839/WHO_NMH_NHD_MNM_11.1_eng.pdf?ua=1.
15. Mukherjee MB, Colah RB, Martin S, Ghosh K. Glucose-6-phosphate dehydrogenase (G6PD) deficiency among tribal populations of India - Country scenario. Indian J Med Res. 2015;141:516-20.
16. Domingo GJ, Advani N, Satyagraha AW, Sibley CH, Rowley E, Kalnoky M, Cohen J, Parker M, Kelley M. Addressing the gender-knowledge gap in glucose-6-phosphate dehydrogenase deficiency: challenges and opportunities. Int Health. 2019;11:7-14.
17. May J, Meyer CG, Grossterlinden L, Ademowo OG, Mockenhaupt FP, Olumese PE, Falusi AG, Luzzatto L, Bienzle U. Red cell glucose-6-phosphate dehydrogenase status and pyruvate kinase activity in a Nigerian population. Trop Med Int Health. 2000;5:119-23.
18. Minucci A, Moradkhani K, Hwang MJ, Zuppi C, Giardina B, Capoluongo E. Glucose-6-phosphate dehydrogenase (G6PD) mutations database: review of the "old" and update of the new mutations. Blood Cells Mol Dis. 2012;48:154-65.
19. Gómez-Manzo S, Marcial-Quino J, Vanoye-Carlo A, Serrano-Posada H, Ortega-Cuellar D, González-Valdez A, Castillo-Rodríguez RA, Hernández-Ochoa B, Sierra-Palacios E, Rodríguez-Bustamante E, Arreguin-Espinosa R. Glucose-6-Phosphate Dehydrogenase: Update and Analysis of New Mutations around the World. Int J Mol Sci. 2016;17.
20. Devendra R, Shanmugam R, Singh M, Vishwakarma CP, Godbhole S, Singh N, Gupta V, Kedar P, Mukherjee MB. Identification of a novel S184F mutation causing glucose-6-phosphate-dehydrogenase deficiency in a tribal family of Madhya Pradesh, Central India. Meta Gene. 2017;12:4.
21. Chalvam R, Colah RB, Mohanty D, Ghosh K, Mukherjee MB. Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency among the tribals in Western India. Blood Cells Mol Dis. 2009;43:156-7.
22. Nishank SS, Chhotray GP, Kar SK, Ranjit MR. Molecular variants of G6PD deficiency among certain tribal communities of Orissa, India. Ann Hum Biol. 2008;35:355-61.
23. Sarkar S, Biswas NK, Dey B, Mukhopadhyay D, Majumder PP. A large, systematic molecular-genetic study of G6PD in Indian populations identifies a new non-synonymous variant and supports recent positive selection. Infect Genet Evol. 2010;10:1228-36.
24. Jiang W, Yu G, Liu P, Geng Q, Chen L, Lin Q, Ren X, Ye W, He Y, Guo Y, Duan S, Wen J, Li H, Qi Y, Jiang C, Zheng Y, Liu C, Si E, Zhang Q, Tian Q, Du C. Structure and function of glucose-6-phosphate dehydrogenase-deficient variants in Chinese population. Hum Genet. 2006;119:463-78.
25. Matsuoka H, Thuan DT, van Thien H, Kanbe T, Jalloh A, Hirai M, Arai M, Dung NT, Kawamoto F. Seven different glucose-6-phosphate dehydrogenase variants including a new variant distributed in Lam Dong Province in southern Vietnam. Acta Med Okayama. 2007;61:213-9.
26. Nuchprayoon I, Sanpavat S, Nuchprayoon S. Glucose-6-phosphate dehydrogenase (G6PD) mutations in Thailand: G6PD Viangchan (871G>A) is the most common deficiency variant in the Thai population. Hum Mutat. 2002;19:185.
27. Kawamoto F, Matsuoka H, Kanbe T, Tantular IS, Pusarawati S, Kerong HI, Damianus W, Mere D, Dachlan YP. Further investigations of glucose-6-phosphate dehydrogenase variants in Flores Island, eastern Indonesia. J Hum Genet. 2006;51:952-7.
28. Wang J, Luo E, Hirai M, Arai M, Abdul-Manan E, Mohamed-Isa Z, Hidayah N, Matsuoka H. Nine different glucose-6-phosphate dehydrogenase (G6PD) variants in a Malaysian population with Malay, Chinese, Indian and Orang Asli (aboriginal Malaysian) backgrounds. Acta Med Okayama. 2008;62:327-32.
29. Luzzatto L, Notaro R. Malaria. Protecting against bad air. Science. 2001;293:442-3.
30. Rovira A, Vulliamy TJ, Pujades A, Luzzatto L, Corrons JL. The glucose-6-phosphate dehydrogenase (G6PD) deficient variant G6PD Union (454 Arg-->Cys) has a worldwide distribution possibly due to recurrent mutation. Hum Mol Genet. 1994;3:833-5.