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Implementation of the newborn screening programme for sickle cell disease in England: results for 2003–2005

机译:在英格兰实施镰状细胞疾病新生儿筛查计划:2003-2005年的结果

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Objectives This paper reports early screening results from the newborn sickle cell disease screening programme recently implemented in England. nSetting England. Screening is offered at 5–8 days of age as part of the existing bloodspot test and offered to all babies irrespective of ethnicity. nnMethods The laboratory methods recommended are high performance liquid chromatography (HPLC) and iso-electric focusing (IEF).15 Two methods of analysis must be applied to all screen positive results. The conditions screened for are:- Sickle cell anaemia (Hb SS), Hb SC disease, Hb S/β-thalassaemia, Hb S/DPunjab, Hb S/OArab, Hb S/HPFH. Carriers identified for the common haemoglobin variants are reported to parents and follow-up counselling is offered. A bespoke laboratory quality assurance programme has been established which has defined standards of satifactory performance. nnResults Provisional figures from the first seven months of screening (up to March 2004) 108,255 infants were screened gave a screen positive rate of 1:900 for these high prevalence areas and a carrier rate of 2.7%. Figures for 2004–2005 show about 250 significant screen positive results for sickle cell disorders and about 6,500 carriers were identified. The birth prevalence for screen positive results from 2004–05 is 1:1500. We estimate that when there is countrywide data, the national birth prevalence will be about 1:2000–1:2,500. nnConclusion The results from the national newborn sickle cell screening programme in England — show that the sickle cell disorders are as common as cystic fibrosis (CF) in England, although the distribution of cases is concentrated in London and other urban areas. The findings and approach to implementation adopted in England may be of interest to other Western European countries with increasing rates of sickle cell disease who are considering such programmes and also to other developed countries.
机译:目的本文报道了最近在英格兰实施的新生儿镰状细胞疾病筛查计划的早期筛查结果。 n设置英格兰。作为现有血液检查的一部分,在5至8天时进行筛查,并向所有婴儿提供种族隔离。 nn方法推荐的实验室方法是高效液相色谱(HPLC)和等电聚焦(IEF)。15必须对所有筛查阳性结果应用两种分析方法。筛选的条件为:-镰状细胞性贫血(Hb SS),Hb SC疾病,Hb S /β地中海贫血,Hb S / DPunjab,Hb S / OArab,Hb S / HPFH。鉴定出常见血红蛋白变异的携带者会报告给父母,并提供后续咨询。已经建立了定制的实验室质量保证计划,该计划定义了令人满意的性能标准。结果筛选的前七个月(至2004年3月)的暂定数字对这些高流行地区的108,255例婴儿进行了筛查,阳性率为1:900,带菌率为2.7%。 2004-2005年的数据显示,约有250项针对镰状细胞疾病的显着筛查阳性结果,并鉴定出约6,500例携带者。 2004-05年度筛查阳性结果的出生率为1:1500。我们估计,如果有全国范围的数据,全国出生率将约为1:2000–1:2,500。结论英格兰国家镰刀细胞筛查计划的结果表明,镰刀细胞病与英格兰的囊性纤维化(CF)一样常见,尽管病例分布集中在伦敦和其他城市地区。在英格兰采用的调查结果和实施方法可能对正在考虑实施此类计划的镰刀状细胞病发病率上升的其他西欧国家以及其他发达国家都感兴趣。

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