title: A comprehensive screening program for β-thalassemia and other hemoglobinopathies in the Hooghly District of West Bengal, India, dealing with 21 137 cases.
abstract: We here present a report of population screening programs (January 2012-December 2015) conducted by the Thalassemia Control Unit, Imambara Sadar Hospital, Chinsurah, Hooghly in the Hooghly District of West Bengal, India for prevention of thalassemia. We screened β-thalassemia (β-thal) heterozygotes and homozygotes, and Hb E (HBB: c.79G > A)-β-thal compound heterozygotes. Among 21 137 cases, we found 1968 heterozygotes and 192 homozygotes or compound heterozygotes. Results were evaluated with standard hematological analyses including red cell indices, hemoglobin (Hb) typing and quantification. The participants of the screening program were divided into six groups (children, pre-marriage cases, post-marital cases, family members of affected individuals, family members of carriers and pregnant women). While considering the average frequency of carriers, many reports recorded both related individuals (family members of trait and affected individuals) as well as unrelated individuals such as school children and pregnant women. These would have to be considered separately and only the unrelated individuals taken to estimate carrier frequencies in this article that would give more realistic data on carrier frequency of unrelated individuals.
authors.affiliation: a Imambara Sadar Hospital , Thalassaemia Control Unit , Chinsurah, Hooghly , West Bengal , India.
authors.forename: Kallol Kumar
authors.initials: KK
authors.lastname: Bhattacharyya
authors.affiliation: b Institute of Genetic Medicine and Genomic Science , Kolkata , West Bengal , India.
authors.forename: Tridip
authors.initials: T
authors.lastname: Chatterjee
authors.affiliation: a Imambara Sadar Hospital , Thalassaemia Control Unit , Chinsurah, Hooghly , West Bengal , India.
authors.forename: Ujjalendu Bikash
authors.initials: UB
authors.lastname: Mondal
mesh_terms: D005260:Female; D005787:Gene Frequency; D006403:Hematologic Tests; D006446:Hemoglobin E / Q000235:genetics; D006453:Hemoglobinopathies / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007194:India / Q000453:epidemiology; D008403:Mass Screening / Q000379:methods*; D011247:Pregnancy; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics
chemical_list: D006446:Hemoglobin E
keywords: Hb A2/E; Hb E-β-thalassemia; population screening; β-Thalassemia