Khneisser Issam, Adib Salim M, Loiselet Jacques, Megarbane André
Newborn Screening Laboratory, Medical Genetic Unit, Faculty of Medicine, Saint Joseph University, B.P. 11-5076 Riad El Solh, Beirut, Lebanon.
J Med Liban. 2007 Jul-Sep;55(3):129-32.
G6PD deficiency is one of the most prevalent genetic diseases in Lebanon (1% in Lebanese males). Easy and effective screening methods exist to detect this deficiency early in newborns.
To assess the cost-effectiveness of G6PD deficiency screening in the routine work-up of every male newborn in Lebanon.
Of 299 babies with G6PD deficiency detected between 1999 and 2004, 139 (46.5%) were located, contacted, and surveyed for their experience of acute anemia crises.
A previous community survey had indicated a 77.8% risk for an acute anemia crisis necessitating hospitalization in unscreened patients, most often associated with consuming fava beans raw or in combination products. In contrast, only 5 (3.8%) of the 139 screened G6PD-deficient babies had ever developed a severe acute anemia crisis. The risk for hospitalization following a crisis had thus been reduced by 95% among patients screened for G6PD deficiency, compared to those unscreened. The estimated mean cost of each hospitalization, which lasts on average 7 days, is 1450 USD. The cost of screening is about 3 USD. The analysis indicates that, given the current prevalence of the deficiency and the reduction in hospitalization rates associated with knowing one's status, the cost of systematic screening is about 2.58 times lower than that of anemia-related hospitalizations in an unscreened population.
The efficiency of routinely testing evidenced here supports changes in screening policies for boys.
葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症是黎巴嫩最常见的遗传病之一(黎巴嫩男性发病率为1%)。目前已有简便有效的筛查方法可在新生儿早期检测出这种缺乏症。
评估在黎巴嫩对每位男性新生儿进行常规检查时筛查G6PD缺乏症的成本效益。
在1999年至2004年间检测出的299例G6PD缺乏症患儿中,找到并联系了139例(46.5%),调查他们急性贫血危机的经历。
此前的一项社区调查显示,未筛查的患者发生急性贫血危机并需要住院治疗的风险为77.8%,这通常与食用生蚕豆或含有蚕豆的复合产品有关。相比之下,在139例经筛查的G6PD缺乏症患儿中,只有5例(3.8%)曾发生过严重的急性贫血危机。因此,与未筛查的患者相比,G6PD缺乏症筛查患者危机后住院的风险降低了95%。每次住院的平均费用估计为1450美元,平均住院时间为7天。筛查费用约为3美元。分析表明,鉴于目前该缺乏症的患病率以及知晓自身状况后住院率的降低,系统筛查的成本比未筛查人群中与贫血相关的住院费用低约2.58倍。
此处证明的常规检测效率支持对男孩筛查政策的改变。