Aderotoye-Oni Seyi, Diaku-Akinwumi Ijeoma N, Adeniran Adeyinka, Falase Bode
Internal Medicine, University of Pittsburgh Medical Center Pinnacle, Harrisburg, USA.
Paediatrics, Lagos State University Teaching Hospital, Lagos, NGA.
Cureus. 2018 Dec 31;10(12):e3806. doi: 10.7759/cureus.3806.
Worldwide, sickle cell disease (SCD) poses a significant public health concern. It causes recurrent morbidity, and premature death is a distinct possibility, especially in Nigeria, which bears half the world's burden of SCD patients. Nigeria has yet to establish a newborn screening program; consequently, most affected children are diagnosed between one and three years of age when a health problem arises. Parents are unprepared to identify SCD and seek comprehensive management early enough for the best outcome. Awareness of carrier status and knowledge of SCD would ensure informed reproductive choices. Questionnaires were employed to conduct a prospective, cross-sectional study of the occurrence of missed carrier status of one biological parent of children enrolled at the pediatric sickle cell disease clinic of a teaching hospital. The institution's ethics committee approved the study. Of 133 respondents, 53% of the parents were unaware of being sickle cell carriers and did not expect to have children with SCD. Among families in which one or both parents proactively sought to know their genotype, 35% of all parents received incorrect genotyping results regarding the SCD risk of their offspring. The majority of incorrectly assigned hemoglobin AA results occurred in private laboratories. More than 60% of the respondents reported gaining awareness regarding SCD through antenatal care (51%) and schools (17%), as opposed to public awareness campaigns (8%). Many parents in our study population were unprepared for their children's SCD diagnosis. Awareness campaigns need to be revisited as a major potential modality to increase outreach about SCD. Standardization and improved quality control of laboratory testing involving screening of the sickle cell trait could reduce the frequency of wrong genotype assignment.
在全球范围内，镰状细胞病（SCD）引发了重大的公共卫生问题。它会导致反复发病，而且很有可能过早死亡，尤其是在尼日利亚，该国承担着全球一半的镰状细胞病患者负担。尼日利亚尚未建立新生儿筛查项目；因此，大多数患病儿童是在出现健康问题的1至3岁时被诊断出来的。父母没有准备好识别镰状细胞病，也没有尽早寻求全面管理以获得最佳结果。了解携带者状态和镰状细胞病知识将确保做出明智的生育选择。采用问卷调查对一家教学医院儿科镰状细胞病诊所登记的儿童的一位亲生父母的携带者状态漏检情况进行了一项前瞻性横断面研究。该机构的伦理委员会批准了这项研究。在133名受访者中，53%的父母不知道自己是镰状细胞携带者，也没想到会生下患有镰状细胞病的孩子。在父母一方或双方主动寻求了解自己基因型的家庭中，35%的父母收到了关于其后代镰状细胞病风险的错误基因分型结果。大多数错误判定为血红蛋白AA结果的情况发生在私立实验室。超过60%的受访者报告称是通过产前护理（51%）和学校（17%）了解到镰状细胞病的，而通过公众宣传活动了解到的仅占8%。我们研究人群中的许多父母对孩子被诊断为镰状细胞病毫无准备。需要重新审视宣传活动，将其作为扩大镰状细胞病宣传范围的一个主要潜在方式。涉及镰状细胞性状筛查的实验室检测的标准化和质量控制的改善可以减少错误基因分型的频率。
