PRE-MARITAL SCREENING TESTS OF Î²-THALASSEMIA TRAIT IN DAKSHINA KANNADA POPULATION OF KARNATAKA
Keywords:Nil, Complete hemogram, Discriminant functions, NESTROFT, Cellulose acetate electrophoresis
Objective: Î²-Thalassemia is one of the familiar single gene disorders which passes from parents to offspring. The prevalence of Î²-thalassemia trait varies from 1-14% in different regions of India. Every year almost 9000 Î²-thalassemic major children are being born in the Indian sub-continent. In the present study, the prevalence of Î²-thalassemia trait was checked and some screening tests were performed to detect it among the Dakshina Kannada population of Karnataka.
Methods: A total of 800 youngsters were selected for the study, males being above 21 y and females above 18 y. Two ml of blood was drawn and collected in K2 EDTA bottles and complete hemogram was immediately checked. Samples which have Mean Corpuscular Volume (MCV)<80 fico litres(fl) were selected for the study. Five discriminant functions were calculated. NESTROFT (Naked Eye Single Tube Red Cell Osmotic Fragility Test) was performed in all the samples. The samples which show positive for NESTROFT and at least 2 discriminant functions were further checked for HbA2 level using cellulose acetate electrophoresis to confirm the Î²-thalassemia trait. A comparison was made with the normal samples which have MCV Ëƒ 80fl.
Results: Prevalence of Î²-thalassemia trait was found to be 5.125 % in this population. The obtained values were analyzed using unpaired Student'sâ€˜t' test using GraphPad prism (Version-3.0). Samples of Î²-thalassemia trait have significant changes in the white blood corpuscles (WBC p=0.1266), red blood corpuscles (RBC p=0.0130), hemoglobin (Hb p<0.0001), hematocrit (HCT p<0.0001), MCV(p<0.0001), mean corpuscular hemoglobin (MCH p<0.0001), mean corpuscular hemoglobin concentration (MCHC p<0.0001), platelets (PLT p=0.0005), HbA2(p<0.0001) compared to normal controls.
Conclusion: The present study shows that the people with Î²-thalassemia trait have a significant variation in complete hemogram compared to normal; NESTROFT and discriminant functions can be used for the screening of Î²-thalassemia trait in the population.
Nasser AA, Al-Hamdan, Yagob YA, Fahad MA, Abdul JC. Premarital screening for thalassemia and sickle cell disease in Saudi Arabia. Genet Med 2007;9:372-7.
El-Hazmi AF, Warsy AS. Hemoglobinopathies in Arab countries. Oxford University Press 1999;30:83-110.
Weatherall DJ. The diagnostic features of the different forms of thalassaemia. Haematology 1983;1:1-26.
Pirastu M, Ristaldi MS, Loudianos G, Murru S, Sciarratta GV, Parodi MK, et al. Molecular analysis of atypical beta-thalassemia heterozygotes. Ann NY Acad Sci 1990;612:90-7.
Verma IC. Burden of genetic disorders in India. Indian J Paediatr 2000;67:893-8.
Vaz FE, Thakur CB, Banerjee MK, Gangal SG. Distribution of beta-thalassemia mutations in the Indian population referred to a diagnostic centre. Haemoglobin 2000;24:181-94.
Kiss TL, Ali MA, Levine M, Lafferty JD. An algorithm to aid in the investigation of thalassemia trait in multicultural populations. Arch Pathol Lab Med 2000;124:1320-3.
Shanthi G, Balasubramanyam D, Srinivasan R. Clinical and demographical studies of beta (Î²)â€“thalassemia in Tamilnadu. Res J Pharm Chem Biol Sci 2013;4:952-61.
Mehta BC, Dave VB, Joshi SR, Baxi AJ, Bhatia HM, Patel JC. Study of hematological and genetic characteristics of Kutchi Bhanushali Community. Indian J Med Res 1972;60:305-11.
Sukumaran PK. Abnormal haemoglobins in India. Sree Saraswati Press 1975;1:225-61.
Chouhan DM, Chouhan V. Epidemiology: symposium on thalassemia. Indian J Hematol Blood Transf 1992;10:1-6.
Jawahirani A, Mamtani M, Das K, Rughwani V, Kulkarni H. Prevalence of beta thalassemia in sub-castes of Indian sindhis: results from a two-phase survey. Indian J Public Health 2007;121:193-8.
Mohanty D, Colah R, Gorakshakar A. Community control of thalassaemia syndromes-Awareness, screening, genetic counselling and prevention. A National Multicentric Task Force Study of Indian Council of Medical Research. New Delhi. ICMR; 2008.
Madan N, Sharma S, Sood SK, Colah R, Bhatia HM. The frequency of Î²-thalassemia and other hemoglobinopathies in northern and western India. Indian J Hum Genet 2010;16:16-25.
Rakholia R, Chaturvedi P. Prevalence of Î² thalassemia carrier state in Sindhi community of Wardha and evaluation of risk factors for Î² thalassemia trait. Nigerian J Clin Practice 2013;16:375-80.
Dakshina Kannada District: Census; 2011.
Ernst, Young. Dakshina Kannada-the afforest conurbation; 2012.
Daijiworld. Dakshina Kannada most literate district; 2016.
Gorakshaker C, Colah R, Nadkarni A, Desai S. Evaluation of the single tube osmotic fragility test in detection of B-thalassemia trait. Nat Med J India 1990;3:171-3.
Sujatha R, Sreekantha, Niveditha SR, Avinash SS, Remya, Vinodchandran, et al. The study of recent biochemical and pathological aspects of thalassemia. Int J Health Sci Res 2013;1:140-52.
England JM, Fraser PM. Differentiation of iron deficiency from thalassemia trait by routine blood count. Lancet 1973;1:449-52.
John O, Cornelis LH, Joanne TS, Mary P, Michael A, Renzo G. Prevention of thalassemias and other haemoglobin disorders: laboratory protocols. Thalassemia International Federation; 2012.
Gupta AD, Hegde C, Mistri R. Red cell distribution width as a measure of severity of iron deficiency in iron deficiency anemia. Indian J Med 1994;100:177-83.
Mohamed M, Edibany, Kameel F, Ninos JJ, Douglas R. Usefulness of certain RBC indices in diagnosing and differentiating thalassemia trait from Iron Deficiency anemia. Am J Clin Pathol 1999;111:676-82.
Khin EH, Aung MH, Thein M. Thalassemia in the outpatient department of the Yangon childrenâ€™s hospital in Myanmar: basic haematological values of thalassemia traits. South East Asian J Trop Med Public Health 1992;23:264-8.
Madan N, Meera S, Satendra S, Usha R, Kusum K. Red cells indices and discriminant functions in the detection of betaâ€“thalassemia trait in a population with high prevalence of iron deficiency Anemia. Indian J Pathol Microbiol 1999;42:55-61.
Maheshwari M, Arora S, Kabra M, Menon PSN. Carrier screening and prenatal diagnosis of betaâ€“thalassemia. Indian Pediatr 1999;36:1119-25.
Manglani M, Lokeshwar MR, Vani VG, Nishi B, Vijay M, â€˜NESTROFTâ€™-An effective screening test for betaâ€“thalassemia trait. Indian Pediatr 1997;34:702-7.
Mehta BC, Gandhi S, Mehta S. Screening for beta thalassemia trait with naked eye single tube red cell osmotic fragility test in hematology clinics. Indian J Hematol Blood Transf 1991;9:133-6.
Susanna T, Srivastana A, Jayaseelan L, Dennison D, Chandy C. NESTROFT as a screening test for the detection of thalassemia and common haemoglobinopathies-An evaluation against a high-performance liquid chromatographic method. Indian J Med Res 1996;104:194-7.
Raghavan K, Lokeshwar MR, Birewar N, Nigam V, Mangalani MV, Raju. Evaluation of naked eye single tube red cell osmotic fragility test in detecting Î²-thalassemia trait. Indian Pediatr 1991;28:469-72.