title: Incidence of the Hb E [β26(B8)Glu→Lys, GAG>AAG] variant in Totos, one of the smallest primitive tribes in the world.
abstract: Toto is one of the smallest tribes in the world. This primitive sub Himalayan, endogamous tribe lives in a small, isolated village called Totopara in the Jalpaiguri district of West Bengal in India. The tribal communities of West Bengal are vulnerable to various genetic disorders such as β-thalassemia (β-thal). We have studied 443 Totos to define their Hb E [β26(B8)Glu→Lys, GAG>AAG] status. Awareness and screening camps have been organized in various parts of Totopara during the last 2 years. We collected 3 mL peripheral blood from each individual aseptically on which to use the naked eye single tube red cell osmotic fragility test (NESTROFT); complete hemogram and high performance liquid chromatography (HPLC) were done to detect their carrier status. The Hb E variant had been found to be prevalent among the Totos. To confirm the codon 26 (GAG>AAG) mutation in the β-globin gene, amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) was performed. Restriction fragment length polymorphism (RFLP)-PCR was carried out with 44 Hb E alleles to construct the haplotype(s) of the Totos. Our extensive studies have revealed that 49.21% of Totos are Hb E heterozygotes and 19.19% Totos are Hb E homozygotes. The most prevalent haplotype linked with the codon 26 mutation in the Totos is [+ - - - - -] (HincII 5'ϵ, HindIII (G)γ, HindIII (A)γ, HincII 5'ψβ, HincII 3'ψβ and HinfI 3'β). Consanguineous marriages have resulted in a significant increase of the percentages of heterozygotes and homozygotes of Hb E in the Totos. Genetic counseling is essential and important to prevent the spread of this mutation and hence to save them from having any kind of clinically significant hemoglobinopathy in the future.
authors.affiliation: Department of Molecular Biology, Netaji Subhash Chandra Bose Cancer Research Institute, Kolkata, India.
authors.forename: Deboshree
authors.initials: D
authors.lastname: Bhattacharyya
authors.forename: Ashis
authors.initials: A
authors.lastname: Mukhopadhyay
authors.forename: Abhijit
authors.initials: A
authors.lastname: Chakraborty
authors.forename: Swati
authors.initials: S
authors.lastname: Dasgupta
authors.forename: Soma
authors.initials: S
authors.lastname: Mukhopadhyay
authors.forename: Nabamita
authors.initials: N
authors.lastname: Pal
authors.forename: Jayasri
authors.initials: J
authors.lastname: Basak
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D005260:Female; D006239:Haplotypes; D006446:Hemoglobin E / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007194:India / Q000453:epidemiology; D007223:Infant; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D044465:White People / Q000235:genetics; D055815:Young Adult; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics*
chemical_list: D055544:beta-Globins; D006446:Hemoglobin E