title: Mutation Spectrum of β-Thalassemia and Other Hemoglobinopathies in Chittagong, Southeast Bangladesh.
abstract: Thalassemia is one of the most common autosomal recessive blood disorders in the world. It shows a variety of clinical expression, starting from asymptomatic to severe blood transfusion dependence. More than 500 alleles have been characterized in or around the β-globin region. Moreover, most geographical regions have their own characteristics, frequency and availability of these alleles, predominantly circulating within the communities present in that particular region. In this study, we explored the spectrum of β-thalassemia (β-thal) alleles present in Chittagong, Southeast Bangladesh. This study comprises β-thal and Hb E (HBB: c.79 G > A) patients from in and around the area of Chittagong. Not only exploring the complete β-globin mutation spectrum of the area, but we also tried to look at the origin of the mutated alleles. The β-thal mutations of Bangladesh show a relatively wide spectrum of alleles, which further demonstrates the heterogeneity of the disease in this country. Although our study showed that the majority of the mutations have their origin in neighboring countries such as India, countries of Southeast Asia, Pakistan, etc., some unusual alleles do not originate in neighboring countries and put a little more diversity in the overall spectrum of β-thal-specific alleles. Overall, this study demonstrates the mutation spectrum related to β-thal in Chittagong, Southeast Bangladesh.
authors.affiliation: a Department of Human Genetics , Institute of Genetic Medicine and Genomic Science , Kolkata , West Bengal , India.|b Institute of Genetic Engineering , Kolkata , West Bengal , India.
authors.forename: Tridip
authors.initials: T
authors.lastname: Chatterjee
authors.affiliation: a Department of Human Genetics , Institute of Genetic Medicine and Genomic Science , Kolkata , West Bengal , India.
authors.forename: Amit
authors.initials: A
authors.lastname: Chakravarty
authors.affiliation: b Institute of Genetic Engineering , Kolkata , West Bengal , India.|c Thalassaemia Foundation , Salt Lake , Kolkata , West Bengal , India.
authors.forename: Sudipa
authors.initials: S
authors.lastname: Chakravarty
authors.affiliation: d Thalassaemia Welfare Centre - Bangladesh , Chittagong , Bangladesh.
authors.forename: Mahmood Ahmed
authors.initials: MA
authors.lastname: Chowdhury
authors.affiliation: d Thalassaemia Welfare Centre - Bangladesh , Chittagong , Bangladesh.
authors.forename: Razia
authors.initials: R
authors.lastname: Sultana
mesh_terms: D000483:Alleles; D001459:Bangladesh / Q000453:epidemiology / Q000208:ethnology; D005260:Female; D005787:Gene Frequency; D006453:Hemoglobinopathies / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D055544:beta-Globins / Q000235:genetics; D017086:beta-Thalassemia / Q000453:epidemiology* / Q000235:genetics*
chemical_list: D055544:beta-Globins
keywords: Amplification refractory mutation system-polymerase chain reaction (ARMS-PCR); Hb A2/E; Hb E-β-thalassemia (Hb E-β-thal); mean corpuscular hemoglobin (MCH); mean corpuscular volume (MCV); β-globin mutations,; β-thalassemia (β-thal)