β地中海贫血的串联筛查：印度识别和咨询携带者的实用方法。 - Suppr

Suppr

超能文献

Cascade screening for beta-thalassemia: A practical approach for identifying and counseling carriers in India.

作者信息

Gorakshakar Ajit C, Colah Roshan B

机构信息

National Institute of Immunohaematology (ICMR), KEM Hospital Campus, Parel, Mumbai - 400 601, India.

出版信息

Indian J Community Med. 2009 Oct;34(4):354-6. doi: 10.4103/0970-0218.58399.

DOI:10.4103/0970-0218.58399

PMID:20165634

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2822201/

Abstract

摘要

相似文献

Cascade screening for beta-thalassemia: A practical approach for identifying and counseling carriers in India.β地中海贫血的串联筛查：印度识别和咨询携带者的实用方法。

Indian J Community Med. 2009 Oct;34(4):354-6. doi: 10.4103/0970-0218.58399.

Prevention of beta-thalassemia in a large Pakistani family through cascade testing.通过级联检测预防巴基斯坦一个大家庭中的β地中海贫血。

Community Genet. 2008;11(1):68-70. doi: 10.1159/000111641. Epub 2008 Jan 15.

Implications of Population Screening for Thalassemias and Hemoglobinopathies in Rural Areas of West Bengal, India: Report of a 10-Year Study of 287,258 Cases.印度西孟加拉邦农村地区地中海贫血和血红蛋白病群体筛查的意义：287258例病例的10年研究报告

Hemoglobin. 2020 Nov;44(6):432-437. doi: 10.1080/03630269.2020.1831530. Epub 2020 Oct 15.

Hemoglobinopathies in India--clinical and laboratory aspects.印度的血红蛋白病——临床与实验室方面

Clin Lab Med. 2012 Jun;32(2):249-62. doi: 10.1016/j.cll.2012.04.011.

Prevention of homozygous beta thalassemia by premarital screening and prenatal diagnosis in India.印度通过婚前筛查和产前诊断预防纯合子β地中海贫血

Prenat Diagn. 2009 Jan;29(1):83-8. doi: 10.1002/pd.2176.

Prevalence and genotypes of alpha- and beta-thalassemia carriers in Hong Kong -- implications for population screening.香港α和β地中海贫血携带者的患病率及基因型——对人群筛查的启示

N Engl J Med. 1997 May 1;336(18):1298-301. doi: 10.1056/NEJM199705013361805.

Genetic counseling and genetic heterogeneity in the thalassemias.

Clin Genet. 1985 Jul;28(1):1-7. doi: 10.1111/j.1399-0004.1985.tb01209.x.

Genetic counseling of asymptomatic carriers in a primary care setting. The effectiveness of screening and counseling for beta-thalassemia trait.基层医疗环境中无症状携带者的遗传咨询。β地中海贫血特征的筛查与咨询效果。

Ann Intern Med. 1986 Jul;105(1):115-23. doi: 10.7326/0003-4819-105-1-115.

Mean corpuscular volume/mean corpuscular hemoglobin values are not reliable predictors of the β-thalassemia carrier status among healthy diverse populations of Himachal Pradesh, India.在印度喜马偕尔邦健康多样的人群中，平均红细胞体积/平均红细胞血红蛋白值并非β地中海贫血携带者状态的可靠预测指标。

Asian J Transfus Sci. 2020 Jul-Dec;14(2):172-178. doi: 10.4103/ajts.AJTS_109_18. Epub 2020 Dec 19.

Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and beta-thalassemia disease carriers in high schools.高中阶段针对泰-萨克斯病和β地中海贫血病携带者的基因筛查项目的20年结果分析。

Am J Hum Genet. 1996 Oct;59(4):793-8.

引用本文的文献

Experiences and insights of thalassaemia carriers from an indigenous community in Sabah, Malaysia.马来西亚沙巴州一个原住民社区地中海贫血携带者的经历与见解。

J Community Genet. 2025 May 14. doi: 10.1007/s12687-025-00800-8.

Cascade testing effectively identifies undiagnosed sickle cell disease in The Gambia: a quality improvement project.串联检测有效地识别了冈比亚未被诊断出的镰状细胞病：一项质量改进项目。

Arch Dis Child. 2025 Apr 17;110(5):347-351. doi: 10.1136/archdischild-2024-327311.

Screening of Extended Family Members of Thalassemia Major Children as a Thalassemia Preventive Strategy.对重型地中海贫血患儿的家族成员进行筛查，作为地中海贫血的预防策略。

Ethiop J Health Sci. 2022 Nov;32(6):1203-1210. doi: 10.4314/ejhs.v32i6.18.

Extended family thalassemia screening as a feasible alternative method to be implemented in identifying carriers in West Java, Indonesia.开展大家庭地中海贫血筛查，作为在印度尼西亚西爪哇省识别携带者的一种可行替代方法。

J Community Genet. 2022 Feb;13(1):103-112. doi: 10.1007/s12687-021-00565-w. Epub 2021 Nov 16.

Prevalence of iron deficiency anemia and beta thalassemia carriers among relatives of beta thalassemia patients in Nile Delta region, Egypt: a multicenter study.埃及尼罗河三角洲地区β地中海贫血患者亲属中铁缺乏性贫血和β地中海贫血携带者的患病率：一项多中心研究

J Egypt Public Health Assoc. 2021 Oct 11;96(1):27. doi: 10.1186/s42506-021-00088-9.

Cascade health service use in family members following genetic testing in children: a scoping literature review.儿童遗传检测后，级联式卫生服务在家庭成员中的利用：范围界定文献综述。

Eur J Hum Genet. 2021 Nov;29(11):1601-1610. doi: 10.1038/s41431-021-00952-4. Epub 2021 Aug 26.

Shine & Lal index as a predictor for early detection of β-thalassemia carriers in a limited resource area in Bandung, Indonesia.Shine 和 Lal 指数作为在印度尼西亚万隆有限资源地区早期检测 β-地中海贫血携带者的预测指标。

BMC Med Genet. 2019 Aug 9;20(1):136. doi: 10.1186/s12881-019-0868-x.

Efficacy and Safety of Deferasirox in Pediatric Patients of Thalassemia at a Tertiary Care Teaching Hospital.去铁胺在一家三级护理教学医院的地中海贫血儿科患者中的疗效和安全性。

Indian J Med Paediatr Oncol. 2017 Apr-Jun;38(2):103-110. doi: 10.4103/ijmpo.ijmpo_103_16.

Clinicoinvestigational and demographic profile of children with thalassemia major.重型地中海贫血患儿的临床研究与人口统计学特征

Indian J Hematol Blood Transfus. 2015 Mar;31(1):121-6. doi: 10.1007/s12288-014-0388-y. Epub 2014 Apr 20.

A Comparison of Hemoglobin A2 Levels in Untreated and Treated Groups of HIV Patients on ART Including Zidovudine.接受包括齐多夫定在内的抗逆转录病毒治疗的未治疗和已治疗HIV患者组中血红蛋白A2水平的比较。

Patholog Res Int. 2013;2013:828214. doi: 10.1155/2013/828214. Epub 2013 Dec 26.

本文引用的文献

Assessing the impact of screening and counselling high school children for beta-thalassaemia in India.

J Med Screen. 2007;14(3):158. doi: 10.1258/096914107782066202.

Effect of consanguinity on screening for thalassemia.

N Engl J Med. 2002 Oct 10;347(15):1200-2. doi: 10.1056/NEJMe020086.

Screening extended families for genetic hemoglobin disorders in Pakistan.在巴基斯坦对大家庭进行遗传性血红蛋白疾病筛查。

N Engl J Med. 2002 Oct 10;347(15):1162-8. doi: 10.1056/NEJMsa013234.

Feasibility of thalassaemia control by extended family screening in Indian context.在印度背景下通过大家庭筛查控制地中海贫血的可行性。

J Health Popul Nutr. 2002 Mar;20(1):31-5.

Feasibility of antenatal screening of beta-thalassemia in Mumbai, India.印度孟买β地中海贫血产前筛查的可行性

Acta Haematol. 2001;105(4):252. doi: 10.1159/000046576.

Post counselling follow-up of thalassemia in high risk communities.

Indian Pediatr. 1997 Dec;34(12):1115-8.

Control of beta-thalassaemia by carrier screening, genetic counselling and prenatal diagnosis: the Sardinian experience.通过携带者筛查、遗传咨询和产前诊断控制β地中海贫血：撒丁岛的经验。

Ciba Found Symp. 1996;197:137-51; discussion 151-5. doi: 10.1002/9780470514887.ch8.

Active cascade testing for carriers of cystic fibrosis gene.对囊性纤维化基因携带者进行活性级联检测。

BMJ. 1994 Jun 4;308(6942):1462-7. doi: 10.1136/bmj.308.6942.1462.

Study of hematological and genetical characteristics of Cutchhi Bhanushali community.库奇·巴努沙利社区血液学和遗传学特征研究。

Indian J Med Res. 1972 Feb;60(2):305-11.

Thalassemia in Bombay: the role of medical genetics in developing countries.孟买的地中海贫血：医学遗传学在发展中国家的作用。

Bull World Health Organ. 1990;68(1):75-81.

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验