Open AccessA Novel Frameshift Mutation, Deletion of HBB:c.199_202delAAAG [Codon 66/67 (-AAAG)] in β-Thalassemia Major Patients from the Western Region of Uttar Pradesh, India
Author(s) -
Waseem Chauhan,
Muhammad Afzal,
Zeeba Zaka-ur-Rab,
Salik Noorani
Publication year - 2021
Publication title -
application of clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.879
H-Index - 32
ISSN - 1178-704X
DOI - 10.2147/tacg.s294891
Subject(s) - frameshift mutation , thalassemia , medicine , uttar pradesh , genetics , compound heterozygosity , mutation , allele , gene , biology , socioeconomics , sociology
Beta thalassemia is one of the most common inherited disorders in India with heterogenous clinical phenotypes from silent carrier to clinically severe ones. Our study aimed to characterize the mutation spectrum in thalassemia patients who are coming to the hospital for follow-up from the western region of Uttar Pradesh India.