Sirdah M M, Al-Kahlout M S, Reading N S
Biology Department, Al Azhar University-Gaza, Gaza, Palestine.
Division of Hematology, Department of Internal Medicine, School of Medicine, University of Utah, Salt Lake City, UT, USA.
Clin Genet. 2016 Sep;90(3):191-8. doi: 10.1111/cge.12786. Epub 2016 May 4.
Congenital genetic disorders affecting neonates or young children can have serious clinical consequences if undiagnosed and left untreated. Early detection and an accurate diagnosis are, therefore, of major importance for preventing negative patient outcomes. Even though the occurrence of each specific metabolic disorder may be rare, their collective impact of preventable complications may be of considerable importance to the public health. Our previous studies showed that glucose-6-phosphate dehydrogenase (G6PD) deficiency is a problem of public health importance that has been shown to be a predominant cause of acute hemolytic anemia requiring hospitalization in Palestinian young children in Gaza Strip. Intriguingly, the majority of these children had one of the three variants, Mediterranean(c.) (563T) , African G6PD A-(c.) (202A) (/c.) (376G) and heretofore unrecognized as a common G6PD-deficient variant G6PD Cairo(c.) (404C) . The high prevalence of G6PD deficiency, as well as dietary factors in the region that precipitate anemia, argues for a need to protect the Palestinian children from a treatable and manageable genetic and metabolic disorder. This work reviews and discusses rationales and challenges of G6PD screening program in Gaza Strip. We advocate adopting a national neonatal G6PD screening program in Gaza Strip to identify children at risk and promote wellness and health for Palestine.
影响新生儿或幼儿的先天性遗传疾病，如果未被诊断和治疗，可能会产生严重的临床后果。因此，早期检测和准确诊断对于防止患者出现不良后果至关重要。尽管每种特定代谢紊乱的发生率可能很低，但它们对可预防并发症的总体影响可能对公共卫生具有相当重要的意义。我们之前的研究表明，葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症是一个具有公共卫生重要性的问题，已被证明是加沙地带巴勒斯坦幼儿急性溶血性贫血需要住院治疗的主要原因。有趣的是，这些儿童中的大多数具有三种变体之一，即地中海型（c.）（563T）、非洲G6PD A-型（c.）（202A）/（c.）（376G）以及此前未被识别为常见G6PD缺乏变体的开罗型G6PD（c.）（404C）。G6PD缺乏症的高患病率以及该地区引发贫血的饮食因素，表明有必要保护巴勒斯坦儿童免受一种可治疗和可管理的遗传和代谢紊乱的影响。这项工作回顾并讨论了加沙地带G6PD筛查项目的基本原理和挑战。我们主张在加沙地带采用全国性新生儿G6PD筛查项目，以识别有风险的儿童，并促进巴勒斯坦的健康和福祉。
