Sánchez-Villalobos María, Campos Baños Eulalia, Juan Fita María Jesús, Egea Mellado José María, Gonzalez Gallego Inmaculada, Beltrán Videla Asunción, Berenguer Piqueras Mercedes, Bermúdez Cortés Mar, Moraleda Jiménez José María, Guillen Navarro Encarna, Salido Fierrez Eduardo, Pérez-Oliva Ana B
Hematology Service, Virgen de la Arrixaca University Hospital, 30120 Murcia, Spain.
Biomedical Research Institute of Murcia (IMIB), 30003 Murcia, Spain.
Int J Neonatal Screen. 2023 Oct 10;9(4):55. doi: 10.3390/ijns9040055.
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.
镰状细胞病（SCD）是一种遗传性常染色体隐性血红蛋白疾病，由血红蛋白S的存在引起，血红蛋白S是一种由β - 珠蛋白链基因第6密码子的核苷酸变化导致的突变异常血红蛋白。SCD涉及一种慢性炎症状态，在血管闭塞性危机期间会加剧，这会导致终末器官损伤，这种损伤在整个生命周期中都会发生。SCD与生命最初几年的过早死亡有关。镰变过程在生命的最初几年会引发脾切除，增加被包膜菌感染的风险。这些并发症可能危及生命，需要早期诊断和管理。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能立即得到护理，从而降低死亡率和发病率。穆尔西亚地区针对SCD的新生儿筛查项目于2016年3月启动。我们旨在确定穆尔西亚地区新生儿人群中镰状细胞贫血和其他结构性血红蛋白病的发病率，该地区是一个移民压力较大的地区，并系统评估新生儿SCD筛查的益处，从而实现更早治疗，同时为所有携带者提供遗传咨询。我们地区SCD的患病率与西班牙其他地区相似，加泰罗尼亚和马德里除外。确诊为SCD的新生儿得到了早期关注，所有携带者都接受了遗传咨询。
