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.

DOI:10.1258/096914106777589650

PMID:16792829

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。