Indian J. Prev. Soc. Med. Vol. 37 No. 3& 4, 2006
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1 Indian J. Prev. Soc. Med. Vol. 37 No. 3& 4, 2006 SICKLE CELL GENE IN TRIBAL AREA OF RAJNANDGAON DISTRICT OF CHHATTISGARH Paunipagar PV 1, Patil SKB 2, Singh CM 3, Arya RC 4 ABSTRACT The present study was carried out with a questioner of extent of health problems due to sickle cell in Rajnandgon Dist of Chhattisgarh. A cross sectional study of 800 subjects in two blocks revealed that 9.75% of population is carrying sickle cell gene with highest percentage in Sahu community (12.34%) followed by Mahar community (10.34%). The highest percentage of Sickle cell diseases was also found in Sahu Community (2.53%). Sickle cell gene is prevalent not only in these communities but has also been penetrated in other communities, like Gond, Devangan, Kurmi, Halba, and Bharmins etc. In the present study the hematological parameters between homozygous and heterozygous shows significant difference in which hetrozygous shows relatively normal parameters whereas impaired noted in homozygous. Pre marital and post marital screening for Sickle cell in this area is suggested for prevention of Sickle cell diseases in offspring without creating unwarranted harm to the individuals who have been detected as heterozygous. Key words: Sickle cell, Homozygous, Heterozygous, Solubility, Electrophoresis, Sahu community. INTRODUCTION Sickle cell diseases is an inherited disorder of haemoglobin synthesis due to substitution of Thymine for adenine in the glutamic acid DNA codon (GAG---GTG), which result in turn, substitution of 6 valine for glutamic acid. In 1923 the sickling phenomenon was shown to be inherited as an autosomal dominant trait Lecturer, Department of Biochemistry, CIMS, Bilaspur 2. Prof. & Head, Department of Biochemistry, CIMS, Bilaspur 3. Lecturer, Department of Community Medicine, CIMS, Bilaspur 4. Lecturer, Department of Pathology, CIMS, Bilaspur Correspondence Address: Dr. Prashant Paunipagar, C/o Mr. A.K. Roy, 339, Ganesh Chowk, Nehru Nagar, Bilaspur (C.G.) drprashantcims@indiatimes.com ; Mobile: Indexed in : Index Medicus (IMSEAR), INSDOC, NCI Current Content, Database of Alcohol & Drug Abuse, National Database in TB & Allied Diseases, IndMED, Entered in WHO CD ROM for South East Asia.
2 Much later, Neel 2 and Beet 3 clarified the genetic basis of Sickle cell anemia by demonstrating that hetrozygosity for the sickle cell trait without significant clinical symptoms, while homozygosity resulted in sickle cell disease.the high prevalence of the gene for sickle cell haemoglobin in the areas of the world where malaria has been common suggests that persons with sickle cell trait have a selective advantage over normal individuals when they contract this disease 4. This advantage seems to be restricted to young children with sickle cell trait and Plasmodium faliparum infection. Although children with sickle cell trait are readily infected by P.falciparaum, the parasite count remains low. It may be due to infected red cell is preferentially sickled and destroyed probably in the vascular system of the liver or spleen, where oxygen tensions are low and phagocytic cells around. Whatever the mechanism, the result is that the infection is of short duration and the incidence of cerebral malaria and death is low. It is reported that the steady state haemoglobin level of patients with sickle cell disease is usually between 5 and 11 gm/dl 5. The range of red cell densities is increased in sickle cell anemia 6, but the average cellular MCHC is normal. Correct diagnosis depends upon documentation of the presence of sickle haemoglobin, preferably by electrophoresis 7. There are rapid methods that are less reliable for the detection of sickle haemoglobin including the observation of sickling of red cells containing sickle haemoglobin microscopically under a cover slip by suspending the cells in a droplet of 2% solution of sodium metabisulfite 8 and sickle Hb by solubility tests. The solubility test depends on the low solubility of reduced sickle haemoglobin, which results in the development of turbidity under appropriate conditions 9. However, such tests do not detect haemoglobin C or Beta-Thalassemia and do not reliably distinguish between sickle cell trait and sickle cell disease and therefore of limited value. Misunderstanding concerning the significance carrier states as led to unwarranted harm to individuals who are detected as carriers in the screening programmes 10. Sickle cell gene is widely recognized specially in the central parts of India 11. The highest frequency of sickle cell gene in India is reported in Orissa followed by Assam, M.P., U.P., Tamilnadu and Gujarat 12. Numbers of screening programmes have been carried out in these areas, but very few screening programmes have been carried out in Chhattisgarh. So this screening programme is carried out for detection of the prevalence rate of sickle cell gene in Rajnandgaon District of Chhattisgarh and also to distinguish between Homozygous & Heterozygous so as to prevent unwarranted harms to the individuals who are detected as Heterozygous and advised to prevent the birth of homozygous by genetic counselling. MATERIAL & METHODS During , Sickle cell counselling and diagnostic camps were organized by Department of Biochemistry, Chhattisgarh Institute of Medical Sciences (CIMS), Bilaspur (C.G.) India, in coordination with District administration at two blocks (Dongargaon & Tumribod) of Rajnadgaon District of Chhattisgarh. All the Indian J. Prev. Soc. Med Vol. 37 No.3& 4 143
3 subjects (800) who attended the camps of various age groups and sex were selected for the purpose of study. After taking history these subjects were screened by the method of Nalbundian 13 rapid solubility test for detection of HbS. Blood sample of subjects of positive solubility test were subjected to Haemoglobin electrophoresis using Marringo Rowe 14 technique for identification of Homozygous and Heterozygous as well as Haematological parameters were carried by M 4- cell counter. RESULTS Table -1: Age wise and sex wise distribution of total screened population homozygous and heterozygous cases Age Group Total Screened Population Heterozygous (AS) Cases found Homozygous (SS) Cases Found Years Total Male Female Total Male Female Total Male Female (7.46%) (10.05%) Total (8.63) 37 (8.55) 32 (8.72) 9 (1.13) 6 (1.14) 3 (0.82) The figure in parentheses shows the percentage of hetrozygous and homogygous cases found. Highest frequency of Sickle cell disease (SS) was found in 6-10 yrs (7.46%), whereas highest percentage of sickle cell trait, heterozygous (AS) were found in yrs age group. Table 2 represents: Highest percentage of sickle cell gene was found in Sahu community (12.34%) followed by Mahar (10.34%) and Gond (9.09%), Devangan (4.17%). Very high frequency of Sickle cell diseases was found in Sahu community (2.53%), which is a serious problem in this community. Indian J. Prev. Soc. Med Vol. 37 No.3& 4 144
4 Table- 2: Caste wise and sex wise distribution of total screened population homozygous and heterozygous cases found. Caste Total population screened Total Carriers found (Homozygous + Hetrozygous) Total Hetrozygous found Total Homozygous found Schedule Caste Mahar 58 6 (10.34) 6 0 Satnami Mochi Lodhi Schedule Tribe Gond 33 3 (9.09) 3 0 Kanwar OBC Sahu (12.34) 31 8 (2.53) Dewangan Soni Yadav Kurmi Patel Nishad Miscellaneous (OBC) General Muslim Halba Brahmin Others general Total ( 9.75%) 69 9 Table- 3: Haematological parameters sickell cell homozygous & heterozygous (total number of cases 78). Parameters Heterozygous Homozygous Male (n=37 ) Female ( n=32 ) Male (n= 6 ) Female ( n=3 ) Hb ± ± ± ± 2.75 RBC 4.83 ± ± ± ± 1.13 MCV ± ± ± ± 5.52 MCH ± ± ± ± 2.80 MCHC ± ± ± ± RDW ± ± ± ± 0.53 HCT ± ± ± ± 7.42 THR ± ± ± ± MPV ± ± ± ± 0.29 PCT ± ± ± ± 0.23 PDW ± ± ± ± 0.64 Indian J. Prev. Soc. Med Vol. 37 No.3& 4 145
5 Table 3 represents the haematological parameters showing the relative healthy status of hetrozygous whereas impaired noted in case of homozygous. DISCUSSION Chhattisgarh is the 26 th state of India, which came in to existence on 1 st November This state has been carved out of United Madhya Pradesh by separating its 16 districts, out of which Rajnadgaon is one of them. Rajnadgaon District is bordered by Vidarbha (Nagpur) Region of Maharashtra state, where high prevalence of sickle cell gene has been found. R.S. Balgir et al. 12 reported a frequency of 20% of sickle cell gene in old Madhya Pradesh that imparts the threatening about this disease in this area. In Rajnadgaon District prevalence of sickle cell gene was found to be %. The sickle cell gene in this area is not only prevalent in the tribal or schedule caste but it has also penetrated in to the general caste. Highest percentage of sickle cell gene was found in Sahu community (12.34%) followed by Mahar (10.34%) and Gond (9.09%), Devangan (4.17%). Highest percentage of Sickle cell diseases was found in Sahu community (2.531), which should be considered a serious problem in this community. Though 3 carriers out of 9 study subjects were found in Bhraman community, it might be due to subjects attending only from already detected families. So further study in detail should be done in this community with larger number of sample size. Likewise further study in detail should also be done in Kurmi, Halba and Yadav communities. Most of the carriers belonging to the Mahar community were migrated from Nagpur region, where Mukherjee M.B. et al.. (1994) 15, reported high frequency of sickle cell gene in schedule caste (SC). Homozygous as well as Heterozygous belonging to Sahu & other communities were of native origin. Inspite of high percentage of sickle cell gene were detected in Mahar community no case of sickle cell disease was found, as highest percentage of sickle cell gene as well as disease was seen in Sahu community of other backward class(obc). Number of educational campaign about awareness for sickle cell disease is required in this region especially in Sahu community and pre-marriage and post marriage counselling programme should be run simultaneously to make awareness about the disease. The counselling is the only harmless tool to prevent the further spread of disease as well as most intensive measure of making people aware of the disease. In our present study the hematological parameters specially Hb, RBC count, PCV, MCV, MCHC & RDW shows significant difference between homozygous and heterozygous in which heterozygous showing relatively normal parameters, indicating the healthy status of heterozygous. During the campaigning precaution should be taken that no misunderstanding or threatening should go in the mind of heterozygous individuals, neither normal peoples should treat them as disease so that no harm should arise during their marriages. Though very few carriers were detected in the other communities like Gonds, Kurmi, Dewangan, Yadav, Halba and Bramhan, should not be neglected the counselling programmes for these communities because Sickle cell gene is Indian J. Prev. Soc. Med Vol. 37 No.3& 4 146
6 increasing like a compound interest day by day and hence chances of Sickle cell disease child will also increase. Present study is a pilot study on this very genuine health problem; therefore there is an urgent need to do the well-designed and large-scale study involving the most area of Chhattisgarh state. Acknowledgement: The Authors wish to thank Dean C.I.M.S. Bilaspur and District Collector Rajnandgaon for their cooperation. The Authors also wish to thank the M.B.B.S. students of 3 rd Batch of C.I.M.S. Bilaspur, and Dr.Mrs.Rina Paunipagar & Mrs. Anuradha Patil for there valuable help during counselling. The Authors are also thankful to lab technician Mr.Arun Moroliya, Jitendra Singh Thakur and Umeshwar Singh Induwa. REFERENCES 1. Taliajerro WH, Huck JG. The inheritance of Sickle cell anemia in man. Genetics 8: 594, Neel JV. The Inheritance of Sickle cell anemia. Science 110: 64, Beet EA. The genetics of the Sickle cell trait in a Bantu tribe. Ann Evgen (London) 14: 279, Luzzatto L. Genetics of red cells and susceptibility to malaria. Blood 54: 961, Glader BE, Proper RD, Buchanan GR. Microcytosis associated with sickle cell anemia AM J Clin Pathol 72:63, Mohandas N, Johnson A, Wyatt J, et al.. Automated quantization of cell density distribution and hyperdense cell. Jraction in RBC disorders. Blood 74: 442, Reid CD, Charache S, Lubin B, Johnson C, Ohene frem Pong K. Management and Therapy of sickle cell Diseases. Bethesda, MD, National Institute of Health, Heart, Lung and Blood Institute, PP , Daland GA, Castle WB. A simple and rapid blood cells: The Use of reducing agents. J Lab Clin Med. 33 : 1082, Hanry RL, Nalbandian RM, Nichols BM, et al.. Modified Sickledex tube test : a specific test for S haemoglobin.clin Biochem 4 : 196, Beutler E, Boggs DR, Heller P, et al.. Hazards of indiscriminate screening for sickling. N Engl J. Med 285: 1485, Negi RS. Sickle Cell Trait in India. A review known distribution, Bull. Anthropol Survey India, Vol 17: Balgir RS. Genetic epidemiology of the three predominant abnormal haemoglobin in India, JAPI; Vol.44: 25-8, Nalbundian RM, Nichols BM, Camp FR, Lusher JM. Test- a rapid inexpensive technique for the detection of haemoglobin S and non-s sickling haemoglobin clinical Chemistry, 17, 1028, Electrophoresis: Marengo Rowe AJ. Rapid electrophoresis and quantization of haemoglobin on cellulose acetate Journal of Clinical Pathology, 18, 790: Mukherjee MB et al., Haemoglobin S. Quantization of sickle cell heterozygous among a tribal group of Valsad and Scheduled caste population of Nagpur. Indian J of Haematology & Blood Transfusion Vol. 12, , Indian J. Prev. Soc. Med Vol. 37 No.3& 4 147
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