A Newborn Screening Program for Sickle Cell Disease in Murcia (Spain).

IF 4 Q1 GENETICS & HEREDITY
María Sánchez-Villalobos, Eulalia Campos Baños, María Jesús Juan Fita, José María Egea Mellado, Inmaculada Gonzalez Gallego, Asunción Beltrán Videla, Mercedes Berenguer Piqueras, Mar Bermúdez Cortés, José María Moraleda Jiménez, Encarna Guillen Navarro, Eduardo Salido Fierrez, Ana B Pérez-Oliva
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Abstract

Sickle cell disease (SCD) is an inherited autosomal recessive hemoglobin disorder caused by the presence of hemoglobin S, a mutant abnormal hemoglobin caused by a nucleotide change in codon 6 of the β-globin chain gene. SCD involves a chronic inflammatory state, exacerbated during vaso-occlusive crises, which leads to end-organ damage that occurs throughout the lifespan. SCD is associated with premature mortality in the first years of life. The process of sickling provokes asplenia in the first years of life with an increased risk of infection by encapsulated germs. These complications can be life-threatening and require early diagnosis and management. The most important interventions recommend an early diagnosis of SCD to ensure that affected newborns receive immediate care to reduce mortality and morbidity. The newborn screening program in the region of Murcia for SCD began in March 2016. We aimed to determine the incidence of sickle cell anemia and other structural hemoglobinopathies in the neonatal population of the region of Murcia, an area of high migratory stress, and to systematically assess the benefit of newborn screening for SCD, leading to earlier treatment, as well as to offer genetic counseling to all carriers. The prevalence of SCD in our region is similar to others in Spain, except for Catalonia and Madrid. The newborns with confirmed diagnoses of SCD received early attention, and all the carriers received genetic counseling.

Abstract Image

Abstract Image

穆尔西亚新生儿镰状细胞病筛查项目(西班牙)。
镰状细胞病(SCD)是一种由血红蛋白S引起的遗传性常染色体隐性血红蛋白病,血红蛋白S是一种突变的异常血红蛋白,由β-珠蛋白链基因密码子6的核苷酸变化引起。SCD是一种慢性炎症状态,在血管闭塞危机期间加剧,导致终末器官损伤,这种损伤会在整个生命周期中发生。SCD与生命最初几年的过早死亡有关。在生命的最初几年,生病的过程会引发无精子症,并增加被封装细菌感染的风险。这些并发症可能危及生命,需要早期诊断和治疗。最重要的干预措施建议对SCD进行早期诊断,以确保受影响的新生儿立即得到护理,从而降低死亡率和发病率。穆尔西亚地区的新生儿SCD筛查项目于2016年3月开始。我们的目的是确定穆尔西亚地区新生儿群体中镰状细胞性贫血和其他结构性血红蛋白病的发病率,穆尔西亚是一个高度迁移压力的地区,并系统评估新生儿SCD筛查的益处,从而获得早期治疗,并为所有携带者提供遗传咨询。除加泰罗尼亚和马德里外,我们地区的SCD患病率与西班牙其他地区相似。确诊为SCD的新生儿得到了早期关注,所有携带者都接受了基因咨询。
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来源期刊
International Journal of Neonatal Screening
International Journal of Neonatal Screening Medicine-Pediatrics, Perinatology and Child Health
CiteScore
6.70
自引率
20.00%
发文量
56
审稿时长
11 weeks
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