Prevalence of common Hamoglobinopathies in Anand gujarat Screening for beta thalassemia and sickle cell trait of university students

Abstract

Background and Objectives newlineHaemoglobinopathies is consider the most common inherited disorders in human and results from genetic mutation in one or more genes. The main objective of our study was to find the prevalence of hemoglobinopathies and to characterize mutation of haemoglobin variant in youth by ARMS PCR from central Gujarat, western India region. newlineMethods newline This Study included total 2,194 students of Anand People s Medicare Society (APMS), Anand for screening of haemoglobin disorders by CBC and HPLC and 44 randomly selected haemoglobinopathies carrier student s sample for DNA analysis by ARMS PCR the samples which remain uncharacterized were sent to S N gene lab, Surat for DNA sequencing from August 2019 -April 2021. newlineResults newlineIn our study the prevalence found was 7.06 per cent, which includes and#946;-thalassemia trait (2.73 per cent), sickle cell trait (3.82 per cent), homozygous sickle cell disease (0.09 per cent), Hb D trait (0.22 per cent), Hb E (0.09 per cent) trait and other haemoglobinopathies (0.08 per cent). The most common mutation among five common mutations characterized was IVS-1, nt5 (Gand#8594;C) in 22 (50 per cent), followed by Codon41/42 (-CTTT) in 5 (11.3 per cent). Other than five common mutation Codon -88 (Cand#8594;T) (2.27 per cent) and Codon 30 (Gand#8594;A) (2.27 per cent) are also detected. The prevalence of haemoglobinopathies with respect to communities, reflects that SC/ST/OBC are at the highest risk with 50%. Communities like Rajput (22.7 per cent), Patel (18.1 per cent), Brahmin (6.8 per cent) and Muslim (2.2 per cent) are also showing prevalence. newlineInterpretation and conclusions newlinePopulation groups with high gene frequency of haemoglobinopathies requires a routine premarital screening program, awareness and education for identification, prevention of high- risk marriages and birth of thalassaemic homozygotes. The study includes mutation in different newline