Hemoglobin E in Northeast India: A review on its origin, distribution, migration and health implication

Authors

  • Mithun Sikdar DNA Laboratory Unit, Anthropological Survey of India, Government of India, Western Regional Centre

DOI:

https://doi.org/10.1515/anre-2016-0019

Keywords:

Hemoglobin E, Northeast India, selection, population affinity, health

Abstract

A systematic review of the studies on hemoglobin E in Northeast India has been carried out to understand the magnitude of research undertaken on this aspect during the last seven decades. Owing to the high prevalence of hemoglobin E in this part of India different authors have studied this hemoglobin from different perspectives and found conflicting results. However a systematic review of such studies is lacking from a holistic point of view. Most of the epidemiological, in vitro as well as in vivo studies show signatures of selection with this hemoglobin locus. However, how this polymorphism is maintained at different rates at different geographical region is still a matter of contention. This review will fill the gap from all perspectives starting from the frequency distribution of hemoglobin E and its spread in different parts of Northeast India, its relationship with malaria hypothesis, the population migration, population affinity and most importantly the health implication arising out of it. A probable origin of hemoglobin E among an Austroasiatic population of Northeast India has been postulated with the help of advance molecular anthropological knowledge like the deep rooted markers of mt DNA and Y-chromosome haplotypes.

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References

Ahmed Das F. 1994. A biological profile of the Assamese Muslim of Dibrugarh, Upper Assam. In: A K Ghosh, editor. People of India: Biocultural dimensions. Inter India publication, New Delhi 84-91.
View in Google Scholar

Antonarakis SF, Orkin SH, Kazazian HH, Goff SC, Boehm CD, Waber PG, et al. 1982. Evidence for multiple origins of the B globin gene in South Asia. Proc Nat Acad Sci USA 79:6608-11.
View in Google Scholar

Balgir RS. 1992. Reproductive profile of mothers in relation to Hemogloin E genotypes. Ind J Pediatr 59:449-54.
View in Google Scholar

Balgir RS. 2005. Emerging trends in genetic epidemiology of hemoglobinopathy in the seven sister states of Northeastern India. In: RK Das and D Basu, editors. Northeast India in perspective: Biology, Social formation and Contemporary Problems, New Delhi: Akansha Publishing House. 17-37.
View in Google Scholar

Barik SS, Sahani R, Prasad BV, Endicott P, Metspalu M, Sarkar BN et al. 2008. Detailed mtDNA genotypes permit a reassessment of the settlement and population structure of the Andaman Islands. Am J Phys Anthropol 136, 19e27.
View in Google Scholar

Barik SS, Sarkar BN. 2012-2013. Understanding haemoglobinopathies in Public Health Scenario of Andaman and Nicobar Island: An Anthropological Approach. J Anth Surv India. 61(2) and 62(1):409-25.
View in Google Scholar

Baruah P, Kotal M. 2008. Distribution of hemoglobin E among Sonowal Kachari of Dibrugarh District, Assam. Paper presented in the seminar on ‘Hemoglobinopathies: Problems and preventive measures’ on 14th and 15th March 2008 in the Department of Anthropology, Dibrugarh University.
View in Google Scholar

Bhasin MK, Walter H, Danker-Hopfe H. 1994. Glucose-6-Phosphate Dehydrogenase Deficiency and abnormal Hemoglobins (S and E) in People of India. J Hum Ecol 3:131-59.
View in Google Scholar

Bhattacharyaa D, Mukhopadhay A, Chakraborty A, Dasgupta S, Mukhopadhay S, Pal N et al. 2013. Incidence of HbE [B26 (B8)Glu-Lys, GAG.AAG] variant in Totos, one of the smallest primitive tribes in the world. Hemoglobin 37(1):26-36.
View in Google Scholar

Chakravarti A, Buetow KH, Antonarakis SE, Waber PG, Boehm CD, Kazazian HH. 1984. Nonuniform recombination within the human beta-globin gene cluster. Am J Hum Genet 36(6):1239-58.
View in Google Scholar

Chaliha L, Mahanta B, Sharma S K. 2013. Prevalence of anemia and role of βE-Globin gene as an associating factor among college students of Assam: A preliminary report. Ind J Comm Med 38(1): 53-55.
View in Google Scholar

Chatterjea J B. 1959. Haemoglobinopathy in India. In: JHP Jonxis, JF Delafresnaye, editors. Abnormal haemoglobins. Oxford: Blackwell Scientific Publications. 322.
View in Google Scholar

Chatterjee SK. 1974. Kirta-Jana-Kriti. The indo-Mongloids: Their contribution to the history and culture of India. Calcutta: The Asiatic Society.
View in Google Scholar

Chaudhuri S, Chakarabortii MR, Mukherjee BN; Sen SN; Ghosh J, Maitra A. 1962. Study of haematological factors, blood group, anthropometric measurements and genetics of some of the tribal groups of India. Proc. 9th Congr Int Soc Blood Transf Mexico.
View in Google Scholar

Chernoff AI, Minnich V, Chongcharoensuk S, 1954. Haemoglobin E: A hereditary abnormality of human haemoglobin. Science 1 20-605.
View in Google Scholar

Chotivanich K, Udomsangpetch R, Pattanapanyasat K, Chierakul W, Simpson J, Looareesuwan S, While N. 2002. Haemoglobin E: balanced polymorphism protective against high parasitemias and thus severe p falciparum malaria. Blood 100:1172-6.
View in Google Scholar

Christianson A, Howson CP, Modell B. 2006. March of Dimes of Global Report on Birth Defects. New York, NY: March of Dimes Birth Defects Foundation.
View in Google Scholar

Das FA, Sikdar. 2010. Opportunity of natural selection among some selected population groups of Northeast India. Ind J Hum Genet 16(2): 61-66.
View in Google Scholar

Das B. 2015. Y-Chromosome Haplogroup data reveal that the origin of Haemoglobin mutation may have occurred among the Proto-Tibeto-Burman of Southeast Asia. Anthropos India 1(1): 167-76.
View in Google Scholar

Das B, Sengupta S. 2010. A Y choromosome haplogroup study in a Tibeto-Burmese speaking population in Upper Assam. Paper presented at the National Seminar on Development of Anthropology in two Distinct time frames: Pre-Independence and Post-Independence Periods. Ranchi, Jharkhand.
View in Google Scholar

Das B, Sengupta S. 2011. Haemoglobin E among the Khasi of East Khasi Hills, Meghalaya. In: T Baruah, editor. People of Contemporary North East India. Pratisruti Publication, Guwahati. 26-37.
View in Google Scholar

Das B, Sengupta S. 2013. Hemoglobin E genotypes and fertility: A study among the Ahom of Upper Assam, India. Int J Res Med Sci 1(4):378-84.
View in Google Scholar

Das BM. 1991. Hemoglobinopathy: An overview. Bull Dept of Anthropology Dib Univ. (16-17): 8-23.
View in Google Scholar

Das BM, Deka R. 1980. Hemoglobin E in Northeast India: A review. Ind J Phys Anthrop Hum Genet. 6:55-82.
View in Google Scholar

Das BM, Chakravarti MR, Delbruck H, Flatz G. 1971. High prevalence of haemoglobin E in two populations in Assam. Hum Genet 12: 64.
View in Google Scholar

Das BM, Deka R and Flatz G. 1975. Predominance of the haemoglobin E gene in the Mongoloid population in Assam. India. Hum Genet 30:187.
View in Google Scholar

Das BM, Patowary AC, Patowary S, Das R. 1979.On some clinical Aspects of Haemoglobin E. J Assam Sci Soc 22A:6-9.
View in Google Scholar

Das SK, Talukdar G. 2001. A review on the origin and spread of deleterious mutants of the β-globin gene in Indian populations. Homo 52(2):93-109.
View in Google Scholar

Das SK, De M, Bhattacharya DK, Sengupta B, Das N, Talukdar G. 2000.Interaction of different hemoblobiopathies in Eastern India with a view to establish Genotype-Phenotype correlation. Am J Hum Biol 12:454-9.
View in Google Scholar

Datta P, Basu S, Chakravarty SB, Chakravarty A, Banerjee D, Chandra S, et al. 2006. Enhanced oxidative cross-linking of hemoglobin E with spectrin and loss of erythrocyte membrane asymmetry in hemoglobin Ebeta-thalassemia. Blood Cells Mol Dis 37:77-81.
View in Google Scholar

De M, Chakraborty G, Das SK, Bhattacharya DK, Talukdar G. 1997. Molecular studies of haemoglobin-E in tribal populations of Tripura Lancet.349:1297.
View in Google Scholar

Deka R. 1981. Fertility and haemoglobin genotypes: A population study in Upper Assam. Hum Genet 59:172-4.
View in Google Scholar

Deka R, Gogoi BC, Hundrieser J. 1987. Hemoglobinopathies in Northeast India. Hemoglobin 11(5):531-8.
View in Google Scholar

Deka R, Reddy AP, Mukherjee BM, Das BM, Banerjee S, Roy M, Dey B, Malhotra KC, Walter H. 1988. Haemoglobin E distribution in ten endogamous population of Assam, India. Hum Hered 38:261-6.
View in Google Scholar

Denic S, Nicholls MG. 2007. Genetic benefits of consanguinity through selection of genotypes protective against malaria. Hum Biol 79(2):145-58.
View in Google Scholar

Flatz G. 1967. Haemoglobin E distribution and population dynamics. Hum Genet 8:189.
View in Google Scholar

Flatz G, Pik C, Sringam S. 1965. Haemoglobin E and β-thalassaemia and their distribution in Thailand. Ann Hum Genet 29:151-70.
View in Google Scholar

Flatz G, Chakravarti MR, Das BM, Delbruck H. 1972. Genetic survey in the population of Assam. I. ABO blood groups, glucose-6-phosphate dehydrogenase and hemoglobin type. Hum Hered 22:223.
View in Google Scholar

Fucharoen G, Fucharoen S, Jetsrisuparb A, Fukumaki Y. 1990. Molecular basis of HbE-beta-thalassemia and the origin of HbE in northeast Thailand: identification of one novel mutation using amplified DNA from buffy coat specimens. Biochem Biophys Res Commun 31;170(2):698-704.
View in Google Scholar

Fullerton, SM. 1996. Allelic sequence diversity at the B globin locus. In: AJ Boyee and CGN Mascie-Taylor, Molecular Biology and Human diversity. Cambridge: Cambride University Press. 225-41.
View in Google Scholar

Fukumaki Y, Fucharoen S. 1991. Generation and spread of globin gene mutations in populations: B thallasemia in Asian countries. In : M Kimura M and N. Takahata N, editors, New aspects of the genetics of molecular evolution. Berlin: Springer-Verlag. 153-76.
View in Google Scholar

Jetsrisuparb A, Sanchaisuriya K, Fucharoen G, Fucharoen S, Wiangnon S, Jetsrisuparb C, et al. 2006. Development of severe anemia during fever episodes in patients with hemoglobin E trait and hemoglobin H disease combinations. J Pediatr Hematol Oncol 28:249-53.
View in Google Scholar

Thangaraj K, Sridhar V, Kivisild T, Reddy AG, Chaubey G, Singh V K, Kaur S, Agarwal P, Rai, A, Gupta J, Mallick C B, Kumar N, Velavan T P, Suganthan R, Udaykumar D, Kumar R, Mishra R, Khan A, Annupurna C, Singh L. 2005. Different population histories of the Mundari-and Mon-Khemer-speaking Austro-Asiatic tribes inferred from the mtDNA 9-bp deletion/insertion polymorphism in Indian populations. Hum Genet 116:507-17.
View in Google Scholar

Hundrieser J, Deka R, Gogoi BC, Papp T, Flatz G. 1988. DNA haplotypes and frameworks associated with the B-globin gene in the Kachari population of Assam (India). Hum Hered 38:240-5.
View in Google Scholar

Itano AH, Bergren WR, Sturgeon P. 1954. Identification of the fourth abnormal human haemoglobin. J Am Chem Soc 76:2278.
View in Google Scholar

Jin L, Su B. 2000. Natives or immigrants: modern human origin in East Asia. Nat Rev Genet 1:126-33.
View in Google Scholar

Kayser M, Brauer S, Weiss G, Schiefenhovel W, Underhill P, Shen P et al. 2003. Reduced Y-chormosome, but not mitochondrial DNA, diversity in human populations from West New Guinea. Am J Hum Genet 72:281-302.
View in Google Scholar

Kazazian HH, Waber PG, Boehm CD, Lee JI, Antonorakis SE, Fairbanks VF. 1984.
View in Google Scholar

Hemoglobin E in Europeans: Further evidence for multiorigins of Beta E globin gene. Am J Hum Genet 36:212-7.
View in Google Scholar

Kumar V, Langstieh BT, Biswas S, Bapu JP, Rao TN, Thangraj K, Reddy AG, Singh L, Reddy BM. 2006. Asian and Non-Asian origins of Mon-Khmer and Mundari speaking Austro-Asiatic populations of India. Am J Hum Biol 18:461-69.
View in Google Scholar

Kumar V, Reddy ANS, Babu JP, Rao TN, Langstieh BT, Thangaraj K, Reddy AG, Singh L, Reddy BM. 2007.Y-chromosome evidence suggests a common parental heritage of Austro-Asiatic populations. BMC Evolutionary Biology 7:47.
View in Google Scholar

Mukherjee BN, Das MK. 1990. Spatial distribution of two predominant abnormal haemoglobins-HbE and HbS in Indian Subcontinent. J Indian Anthrop Society 25:39-59.
View in Google Scholar

Murhekar KM, Murhekar MV, Mukherjee MB, Gorakshakar AC, Surve R, Wadia M, Phanasgaonkar S, Shridevi S, Colah RB, Mohanty D. 2001. Red Cell Genetic Abnormalities, beta-Globin Gene Haplotypes, and APOB Polymorphism in the Great Andamanese, A Primitive Negrito Tribe of Andaman and Nicobar Islands, India. Hum Biol 73(5):739-44.
View in Google Scholar

Nagel RL, Raventoes-Suarez C, Febby ME, Tonowitz H, Sicard D, Labie D. 1981. Imparement of the growth of P.Falciparum in HbEE erythrocytes. J Cli Inves 68:303-5.
View in Google Scholar

Ohashi J, Naka I, Patarapotikul J, Hananantachai H, Brittenham G, Looareesuwan S et al. 2004. Extended linkage disequilibrium surrounding the hemoglobin E variant due to malarial selection. Am J Hum Genet 74:1 198-208.
View in Google Scholar

Orkin SH, Kazazian HH, Antonarakis SE, Ostrer H, Goff SC, Sexton JP. 1982. Abnormal RNA processing due to the exon mutation of beta E-globin gene. Nature 300:768-9.
View in Google Scholar

Papadakis MN, Patrinos GP. 1999.Contribution of gene conversion in the evolution of the human B globin gene family. Hum Genet 104:117-25.
View in Google Scholar

Pathak MS, Borah MS, Kalita D. 2014. Disorders of Hemoglobin variants in Paediatric Patients attending in a tertiary care hospital of Northeast India. Int J Biol Med Research 5(1):3841-6.
View in Google Scholar

Pootrakul P, Sirankapracha P, Hemsorach S, Moungsub W, Kumbunlue R, Piangitjagum A et al. 2000. A correlation of erythrokinetics, ineffective erythropoiesis, and erythroid precursor apoptosis in thai patients with thalassemia. Blood 96:2606-12.
View in Google Scholar

Rao VR. 1998.Variation of HbS frequency in Indian Population: Role of P. Falciparum and other factors. Ind J Hum Genet 4:23-31.
View in Google Scholar

Roychoudhury AK. 1992. Genetic relationships of the populations in eastern India. Ann Hum Biol 19(5):489-501.
View in Google Scholar

Rowe JA, Handel IG, Thera MA, Deans AM, Lyke KE, Kone A et al. 2007. Blood group O protects against severe Plasmodium falciparum malaria through reduced rosetting. PNAS 104(44):17417-76.
View in Google Scholar

Saha N. 1990. Distribution of Hemoglobin E in several Mongoloid populations of Northeast India. Hum Biol 62(4):535-44.
View in Google Scholar

Sanguansermsri T, Flatz G, Flatz SD. 1987. Distribution of hemoglobin E and β-thalassemia in Kampuchea (Cambodia). Hemoglobin 11:481-6.
View in Google Scholar

Sharma SK, Mahanta J. 2009.Prevalence of Hemoglobin variants in Malaria Endemic Northeast India. J Biol Sci 9:288-91.
View in Google Scholar

Sharma SK, Mahanta J. 2013.Prevalence of Haemoglobin E in Assamese Sikh community. Curr Sci 104(8):112-3.
View in Google Scholar

Starck J, Bouhass R, Morle F, Godet J. 1990. Extent and high frequency of a short conversion between the high A gamma and G gamma fetal globin genes. Hum Genet 84(2):179-84.
View in Google Scholar

Shiokawa P, Fucharoen SP, Fucharoen G, Tomatsu S, Fukumaki Y. 1989. Heterogeneity of the B globin gene sequences in Japanese individuals: implications of gene converstion in generation of polymorphisms. J Biochem 105:184-9.
View in Google Scholar

Sikdar M. 2008. Influence of socioeconomic transition on genetic structure: A case study in Upper Assam. Ann Hum Biol 35(1):112-0.
View in Google Scholar

Sikdar M. 2008. G6PD deficiency and natural selection: A review. Paper presented in the seminar on ‘Hemoglobinopathies: Problems and preventive measures’ on 14th and 15th March 2008 in the Department of Anthropology, Dibrugarh University.
View in Google Scholar

Sikdar M, Baruah P, Singh J. 2008. Haemoglobinopathies in Northeast India. DRS-SAP unpublished Report, the department of Anthropology, Dibrugarh University presented in the seminar on ‘Hemoglobinopathies: Problems and preventive measures’ on 14th and 15th March 2008 in the Department of Anthropology, Dibrugarh University.
View in Google Scholar

Sikdar M. 2012. Socioeconomic covariates and their impact on the opportunity for natural selection in a riparian tribe of Northeast India. Anthrop Anz 69 (3):273-87.
View in Google Scholar

Sikdar M. 2012. Prevalence of malnutrition among the Mising children of Northeast India: A comparison between four different sets of criteria. North Am J Med Sci 4:305-9.
View in Google Scholar

Sil SK. 2008. Haemoglobin E mutation, associated haplotypes and hematological studies in three major tribal populations of Tripura. Abstract Paper: International Symposium on Newer frontiers in Bio-Medical Research 28-29th June 2008.
View in Google Scholar

Singh MR, Choudhury B, Singh TS. 2010. Haemoglobin E distribution in four endogamous populations of Manipur (India). Eurasian J Anthropol 1(2):109-17.
View in Google Scholar

Singh K, Sharatchandra. 2011. An Anthropological Profile of Northeast India with special reference to Manipur. Presidensial Address, Section of Anthropological and Behavioral Sciences, 98th Session of Indian Science Congress. Chennai. Than Batu, Hla-Pe. 1971. Haemoglobinopathies in Burma. Trop Geogr Med. 23:15.
View in Google Scholar

Urade BP. 2014. Haemoglobinopathies – HbE and HbS among the Gallong Tribe of West Siang District of Arunachal Pradesh, India. Med Sci 7(26):83-89.
View in Google Scholar

Vemes AMJ, Heynes JD, Tang DB, Dutoit E, Diggs CL. 1986. Decreased growth of Plasmodium famciparum in red cells contain haemoglobin E, a role for oxidative stress, and a sero-epidemiological correlation. Trans R Soc Trop Med Hyg 80:642-8.
View in Google Scholar

Wang HW, Mitra B, Chaudhuri TK, Palanichamy MG, Kong QP, Zhang YP. 2011. Mitochondrial DNA evidence supports northeast Indian origin of the aboriginal Andamanese in the Late Paleolithic. J Genet Genomics 38(3):117-22.
View in Google Scholar

Weatherall DJ. 2010. The inherited diseases of haemoglobin are an emerging global health burden. Blood 115(22):4331-6.
View in Google Scholar

Weatherall DJ, Clegg JB. 2001. The thallasemia syndromes, 4th edition. Oxford, United Kingdom: Blackwell Science.
View in Google Scholar

Wood WAR. 1961. A history of Siam. Bangkok: Thongpradith Press
View in Google Scholar

Wu XZ, Poirier FE. 1995. Human evolution in China. Oxford: Oxford University Press.
View in Google Scholar

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Published

2016-09-30

How to Cite

Sikdar, M. (2016). Hemoglobin E in Northeast India: A review on its origin, distribution, migration and health implication. Anthropological Review, 79(3), 241–263. https://doi.org/10.1515/anre-2016-0019

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