Decreased morbidity in homozygous sickle cell disease detected at birth
Decreased morbidity in homozygous sickle cell disease detected at birth
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DOI：
10.1081/hem-120015024
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发表时间：
2002-01-01
期刊：
影响因子：
1
通讯作者：
de Montalembert, M
中科院分区：
文献类型：
--
作者：
Bardakdjian-Michau, J;Guilloud-Bataille, M;de Montalembert, M
在法国本土，自1985年以来，新生儿镰状细胞病筛查一直在克雷泰伊的亨利蒙多医院进行。在确诊后，儿童将参加一个综合医疗方案。我们的目的是评估该计划在法国的有效性，大多数家庭是第一代移民，文化和社会差异可能会干扰医疗随访。我们比较了两个群体的镰状细胞病的并发症的纯合子SS儿童年龄超过2岁，在他们的最后一次医疗访问，并从初始注册的134 SS儿童招募：（1）38新生儿筛查诊断;（2）69对照，诊断平均年龄为24个月。两组患者最后一次就诊时的平均年龄为58个月，筛查组的脾隔离症和疼痛危象明显减少。两名接受筛查的儿童，属于最初登记的38名接受筛查的儿童，分别在15个月和23个月时死于严重感染，新生儿诊断镰状细胞病，加上具体的预防措施，可能会导致在生命的最初六年，减少疼痛事件和脾隔离发作。对父母的教育是预防措施的标志之一，对第一代移民来说可能很困难。由于这类研究的偏倚，有必要对出生后进行大规模的前瞻性随访，以更好地了解临床过程。
In metropolitan France, newborn screening for sickle cell disease has been performed at the Hopital Henri Mondor, Creteil, since 1985. After confirmation of the diagnosis, children are enrolled in a comprehensive medical-care program. Our aim was to evaluate the effectiveness of this program in France where most families are first generation immigrants with cultural and social differences that can interfere with medical follow-up. We compared the complications of sickle cell disease in two populations of homozygous SS children aged more than two years at their last medical visit, and recruited from an initial register of 134 SS children: (1) 38 diagnosed by neonatal screening; (2) 69 controls, diagnosed at a mean age of 24 months. Mean age at the last medical visit is 58 months in both groups.Splenic sequestrations and painful crises were significantly reduced in the screened group. Two screened children, belonging to the initial register from which the 38 other screened children were collected, died from overwhelming infection at 15 and 23 months, respectively.Neonatal diagnosis of sickle cell disease, coupled with specific preventive measures may lead, in the initial six years of life, to reduced painful events and splenic sequestration episodes. Education of parents is one of the hallmarks of preventive measures and may be difficult in first generation immigrants. Because of the bias of this type of study, a large prospective follow-up since birth is necessary to have a better understanding of the clinical course.