International Journal of Clinical Biochemistry and Research 2020;7(2):226–231 Content available at: iponlinejournal.com International Journal of Clinical Biochemistry and Research Journal homepage: www.innovativepublication.com Original Research Article Screening of Thalassemia in pregnant females visitng tertiary hospital in Amritsar Anju Sharma 1, *, Neha Uppal 1 , Sahiba Kukreja 1 , Mandeep Kaur 1 , Sukhjeet Kaur 1 1 Dept. of Biochemistry, Sri Guru Ram Das Institute of Medical Sciences & Research, Amritsar, Punjab, India ARTICLE INFO Article history: Received 29-11-2019 Accepted 24-12-2019 Available online 30-06-2020 Keywords: Pregnancy Thalassemia carriers Thalassemia screening HPLC Red cell indices ABSTRACT Background: Thalassemic patients live a prolonged life in the light of breakthrough of treatment options and early diagnosis, and therefore it is a matter of interest and importance to have a successful reproductive outcome in such patients. Having a child is the dream and readiness of being pregnant is the inclination of not only Thalassemia intermedia patients but also females suffering from Thalassemia major. Thalassemia is an incurable disease till now and producing thalassemia children only enhances the disease burden both for the society and family. This augments the need of successful and early screening thalassemic pregnancies and counseling them for the possible outcomes. Materials and Methods: The present study was conducted in 460 pregnant Females attending OPD of SGRDIMSAR, Sri Amritsar. Samples were taken after informed consent and processed for Complete Blood Count and Hemoglobin Fractionation using HPLC by Borad. Results: Most of the females had hemoglobin levels between 9-10 g % forming 41.3% of the total females (Table 1). Out of 460 patients enrolled in the study, 21 Females were found to have hemoglobin variants on screening amounting the prevalence of carrier states to 4.53% (Table 3). Conclusion: All pregnant females should be screened for thalassemia carriers in early antenatal period and positive patients should have screening of the partner along with relevant counseling regarding treatment options. Cost effective diagnostic options should be made available in the periphery for mass screening. © 2020 Published by Innovative Publication. This is an open access article under the CC BY-NC license (https://creativecommons.org/licenses/by-nc/4.0/) 1. Introduction A significantly consequential genetic disorder termed thalassemias has a far reaching monetary and psychological dearth. They develop an extensive emotional and social deficit on the individuals suffering from the same. Their families, society and the country also equally bear this burden. Earlier It was found to exist in enormous density in the belt ranging through the Middle-East, Indian subcontinent, Burma, Southeast Asia, and islands of the Pacific till the mediterranean basin but are now frequent throughout the world due to extensive and flourishing movement of people and consanguineous marriages. 1,2 In the world, almost 5.2% of the individuals and even greater than 7% of expecting females carry a significant hemoglobin variant. 1 Couples are at risk of having kids * Corresponding author. E-mail address: docanju30@gmail.com (A. Sharma). with a some or the other hemoglobin abnormality amounts approximately to 1.1%, and 2.7 per 1000 conceptions suffer throughout. 1 The numbers of hemoglobin variants surpass 3.4% in young offspring < 5 years of age. Annually, the females influenced or pretence by hemoglobinopathies amount to greater than 4.13% only in South East Asia. 2 Amongst these, 90% are beta-thalassemia and 4.3% amount to alpha-thalassemia. 2 Per year about, 1.9 lakh offspring are conceived in couples with traits, out of which almost 30% are accounting to the risk of delivering a thalassemic neonate. 2 Still if precautions are undertaken, severely symptomatic disorder can be archaized by many simple steps. Country like India being present on the thalassemic belt, experiences a high rate of β thalassemia minor women very variable in different states. 3,4 India also shows such high figures because of not having a national thalassemia https://doi.org/10.18231/j.ijcbr.2020.049 2394-6369/© 2020 Innovative Publication, All rights reserved. 226