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在印度西孟加拉邦胡格利区开展的一项针对β地中海贫血和其他血红蛋白病的综合筛查项目,涉及21137例病例。

A comprehensive screening program for β-thalassemia and other hemoglobinopathies in the Hooghly District of West Bengal, India, dealing with 21 137 cases.

作者信息

Bhattacharyya Kallol Kumar, Chatterjee Tridip, Mondal Ujjalendu Bikash

机构信息

a Imambara Sadar Hospital , Thalassaemia Control Unit , Chinsurah, Hooghly , West Bengal , India.

b Institute of Genetic Medicine and Genomic Science , Kolkata , West Bengal , India.

出版信息

Hemoglobin. 2016 Nov;40(6):396-399. doi: 10.1080/03630269.2016.1259169. Epub 2017 Mar 3.

DOI:10.1080/03630269.2016.1259169
PMID:28276872
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.

摘要

我们在此报告印度西孟加拉邦胡格利县钦苏拉伊曼巴拉萨达尔医院地中海贫血控制单元于2012年1月至2015年12月开展的预防地中海贫血的人群筛查项目。我们筛查了β地中海贫血(β-地贫)杂合子和纯合子,以及Hb E(HBB: c.79G > A)-β-地贫复合杂合子。在21137例病例中,我们发现了1968例杂合子以及192例纯合子或复合杂合子。通过包括红细胞指数、血红蛋白(Hb)分型和定量在内的标准血液学分析对结果进行评估。筛查项目的参与者被分为六组(儿童、婚前病例、婚后病例、受影响个体的家庭成员、携带者的家庭成员和孕妇)。在考虑携带者的平均频率时,许多报告记录了相关个体(性状和受影响个体的家庭成员)以及无关个体,如学童和孕妇。在本文中,这些必须分开考虑,并且仅采用无关个体来估计携带者频率,这样才能得出关于无关个体携带者频率的更实际的数据。

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