International Research Journal of Biological Sciences ___________________________________ ISSN 2278-3202Vol. 2(6), 57-59, June (2013) Int. Res. J. Biological Sci. International Science Congress Association 57 Short Communication Study of Sickle cell Disease Phenotypes and Sickle Cell Gene Frequency in Some Tribals belonging to Tipeshwar Forest Region, Yavatmal District, Maharashtra, IndiaVed Patki, Varsha Zade*, Vishal Gawande, Sandeep Chede, Dinesh Dabhadkar and Vaibhao Thakare Department of Zoology, Government Vidarbha Institute of Science and Humanities, Amravati-444 604, MH, INDIAAvailable online at: www.isca.in Received 14th March 2013, revised 28th April 2013, accepted 21st May 2013Abstract Sickle cell disease (SCD) is a major gene disorder among the tribal population. Hence the objective of the present study was to determine prevalence and frequency of sickle cell gene in some selected tribal population of the Tipeshwar forest region in Yavatmal District (Central India). A total of 1365 tribal individuals were screened for SCD from 11 tribal villages constituting 3 tribal castes (Gond, Kolam, Pardhan). Using electrophoresis on cellulose acetate membrane 13 individuals was found heterozygous and 15 individuals were found to be homozygous for sickle cell gene. The sickle cell allele frequency was found to be 0.009045 in Gond, 0.01505 in Kolam and 0.0296 in Pardhans. Keywords: Sickle cell anemia, Tribals, Gond, Kolam, Pardhan, Tipeshwar. Introduction Sickle cell disease (SCD) is an autosomal recessive genetically transmitted hemoglobinopathy responsible for considerable morbity and mortality. This is a hereditary disorder caused due to defective hemoglobin structure. Sickle cell disorder is caused by a point mutation at sixth position in globin chain, valine substituting glutamic acid, due to which in deoxygenated state the shape of erythrocytes change to sickle shape and also the fragility of cell membrane increases. Prior to 1952, no information was available about the existence of sickle cell disease in India. In 1952 it was recorded for first time simultaneously amongst the tribal population group of Nilgiri hill and laborers in the tea garden of Assam. Now it is firmly established that these genes harbor amongst different caste groups but with very high prevalence amongst scheduled caste, scheduled tribes and other backward communities3, 4. The prevalence of sickle cell gene has been reported in many parts of India including central India, where the prevalence in the different communities ranges from 9.4% to 22.2 %. According to studies carried out by Kate (2001), 10% of total population of the state of Maharashtra belongs to tribal population groups. Kate6 also reported SCD prevalence of 10% among the korku tribes of Amaravati district and a very high prevalence amongst the tribal population groups of Nandurbar and Gadchiroli districts of the state. In the present work an effort has been made to screen few tribal communities of Tipeshwar forest region, Yavatmal district and find out the magnitude of prevalence of SCD in the tribal groups residing in this region. Material and Methods Screening of SCD was conducted in 11 tribal villages from Tipeshwar forest region of Yavatmal district from July 2011 to March 2012. A total of 1365 blood samples from individuals belonging to 3 different tribal caste were collected by organizing screening camps in co-ordination with the officials from Primary Health Centers. Few drops of blood was collected by bold finger prick for performing the solubility test for preliminary diagnosis of SCD. Blood samples of solubility test positive subjects were later subjected to electrophoresis on cellulose acetate membrane in the laboratory of Anthropological survey of India, Nagpur regional centre, as a confirmatory test for SCD. Allele frequency was calculated using Hardy Weinberg Principle.A dendrogram was drawn as per UPGMA clustering method using phylip (v 3.69) and MEGA (5)10. Results and Discussion In the present work 3 tribal caste individuals i.e. Gond, Kolam and Pardhan suffering from SCD were found to be predominant in the study area. Zade et al11 recorded the presence of SCD in 5 tribal castes (Korku, Bhil Gaoli Gowari and Nihal) of Melghat region in Amravati district. A total of 438 tribal’s were screened for SCD from 6 tribal villages of Melghat region in Amravati district and 43 heterozygotes and 12 homozygotes were documented11. In the present work a total of 1365 tribals from 11 tribal villages of Ghatanji and Kelapur taluka of Yavatmal district were screened for SCD and 13 heterozygotes and 15 homozygotes were recorded. Similarly 983 non tribal International Research Journal of Biological Sciences ________________________________________________ ISSN 2278-3202 Vol. 2(6), 57-59, June (2013) Int. Res. J. Biological Sci. International Science Congress Association 58 indivisuals belonging to Navbouddha and kunbi community were screened and 5 heterozygote and 8 homozygotes for SCD were recorded. The sickle cell allelic frequency in the Melghat region of Amaravati District was reported to be 0.3294 in Korku, 0.4934 in Bhil, 0.4071 in Gaoli, 0.2871in Gowari and 0.2898 in Nihal11. In the present work, the sickle cell allelic frequency was found to be highest in the Pardhans followed by Kolams and Gonds (table 1). Haematological data showed the expected degree of anemia and hemolysis. The average Hb Concentration was found to be 10.15 gm/dl. The hematological indices i.e. RBC count, mean corpuscular haemoglobin (MCH) and hematocrit (HCT) showed considerable deviation from Normal values. The Platelet count (PLT) and WBC counts were found to vary depending upon the degree of infection suffered (table 2). Table -1 Showing the computed genotypic and allelic frequency of Normal and affected allele of the study Population Tribal casts Genotypic frequency Allelic frequency Gond (n=663) AA =0.9879 AS =0.00603 SS =0.00603 p(A) = 0.9830 q(S) = 0.009045 Kolam (n=365) AA =0.09808 AS =0.0008219 SS =0.01009 p(A) = 0.9863 q(S) = 0.0136 Pardhan (n=337) AA =0.9614 AS =0.01780 SS =0.0207 p(A) = 0.9703 q(S) = 0.0296 Navbouddha (n=435) AA=0.9770 AS=0.0091 SS=0.0137 p(A)= 0.9815 q(S)= 0.0182 Kunbi (n=548) AA=0.9945 AS=0.0018 SS=0.0036 p(A)=0.9954 q(S)=0.0045 Table 2 Data showing the values of Hematological parameters of the Sickle cell Positive Tribal Population as Compared with the Control Parameter Sickle cell patient (n=30) Control (n=6) mean±S.E. Range mean±S.E. Range WBC 8.01±9.41 ns 4.2-19.6 6.65±7.31 6.5-8.1 RBC 3.81±4.15*** 2.41-5.66 5.12±5.54 4.8-6.1 Hb 9.6±10.7*** 6.2-17.4 13.89±14.33 13.4-15.0 HCT 30.71±33.61*** 21.3-50.2 46.97±49.13 42.6-52.2 MCV 78.36±82.1 ns 68.60-99.1 81.18±86.32 75.4-90.2 MCH 24.44±26*** 16.9-33.6 28.38±29.64 26.9-31.2 MCHC 30.64±31.6* 26.8-34.8 32.28±33.38 30.9-34.3 PLT 277.81±320.99 ns 165-785 253.45±318.87 169-395 LY 44.44±47.12** 29.3-60.6 30.94±38.96 21.9-44.8 MO 17.96±19.6*** 12.0-27.8 4.58±7.08 2.3-9.8 GR 33.57±38.33*** 19.0-65.8 52.58±62.72 42.4-72.3 LY# 3.78±4.5*** 2.2-9.7 1.79±2.63 0.9-3.6 MO# 1.47±1.77*** 0.4-4.8 0.52±0.78 0.2-1.0 GR# 3.14±4.00 ns 0.8-11.3 3.53±4.13 2.8-5.0 RDW 16.7±17.98*** 13.2-25.5 12.67±13.49 14.6-11.7 MPV 9.53±9.97** 7.5-12.0 8.43±9.09 7.9-10.1 (Level of significance - * P0.05 , ** P0.01, *** P 0.001). (WBC-White Blood Cell Count, RBC-Red blood Cell Count, Hb- Haemoglobin Count, HCT- Hematocrit Count, MCV- Mean Corpuscular volume, MCH-Mean Corpuscular Hemoglobin, MCHC-Mean Corpuscular Hemoglobin Concentration, PLT-Platelet Count, LY-Lymphocytes Count, MO- Monocytes Count, GR-Granulocytes Count, LY#- Lymphocyte number, MO#- Monocyte number, GR#- Granulocyte number, RDW- Red Blood Cell Distribution Width, MPV-Mean Platelet Volume) International Research Journal of Biological Sciences ________________________________________________ ISSN 2278-3202 Vol. 2(6), 57-59, June (2013) Int. Res. J. Biological Sci. International Science Congress Association 59 The dendrogram constructed using the genetic distance obtained from the sickle cell allele frequencies using UPGMA method. Pardhan, Gond and Kolams represent the indigenous, aboriginal, dark-sarkinned, Dravidian-speaking population of the Deccan, of which the gonds are the most primitive tribe12- 14. Hence the kolams, pardhans and gonds form three different embranchments of which the gonds occupy the basal position in the dendrogram. However the navbuddha and Kunbi represent the Aryan population thus forming a single clade (figure 1). Figure 1 Dendrogram Showing genetic relationship among five communities of Tipeshwar Forest Region of Yavatmal DistrictIn the dendrogram study on the tribal groups of Melghat region of Amaravati District, Maharashtra it was reported that Bhil and Gaoli tribals formed one clade and Gowari and Nihal formed the second clade whereas the korku tribe was forming the outgroup11. ConclusionIn the present study sickle cell disease was found to be highly prevalent in the tribal population of Gond, Kolam and Pardhans residing in Tipeshwar forest regions of Yavatmal district. The sickle cell allele frequency was found to be 0.009045 in Gond, 0.01505 in Kolam and 0.0296 in Pardhans. 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