Suppr超能文献

新生儿血红蛋白病筛查:布鲁塞尔一项为期10年计划的回顾

Neonatal haemoglobinopathy screening: review of a 10-year programme in Brussels.

作者信息

Gulbis Béatrice, Ferster Alina, Cotton Frédéric, Lebouchard Marie-Philippe, Cochaux Pascale, Vertongen Fanchon

机构信息

Laboratory of Clinical Chemistry, Cliniques Universitaires de Bruxelles Hôpital Erasme, Brussels, Belgium.

出版信息

J Med Screen. 2006;13(2):76-8. doi: 10.1258/096914106777589650.

Abstract

Since 1994, a neonatal screening programme for major haemoglobinopathies has been conducted in Brussels. We performed a 10-year re-evaluation of the incidence of haemoglobinopathies in Brussels and found that of the 118,366 newborns screened, 64 were diagnosed with a sickle cell syndrome, six had beta-thalassaemia major, four had a haemoglobin C disease and three had a haemoglobin H disease. Of the 64 babies with a sickle cell disease, two died before the age of two years and two did not present at the first neonatal visit. Of the six babies suffering from beta-thalassaemia major, all are alive and two have undergone a haematopoietic stem cell transplantation. The universal neonatal screening programme for haemoglobinopathies should be maintained in Brussels.

摘要

自1994年以来,布鲁塞尔开展了一项针对主要血红蛋白病的新生儿筛查项目。我们对布鲁塞尔血红蛋白病的发病率进行了为期10年的重新评估,发现在118366名接受筛查的新生儿中,64例被诊断为镰状细胞综合征,6例患有重型β地中海贫血,4例患有血红蛋白C病,3例患有血红蛋白H病。在64例患有镰状细胞病的婴儿中,2例在两岁前死亡,2例在首次新生儿访视时未到场。在6例患有重型β地中海贫血的婴儿中,全部存活,2例接受了造血干细胞移植。布鲁塞尔应维持针对血红蛋白病的普遍新生儿筛查项目。

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