Newborn Screening for Sickle Cell Disease and Other Hemoglobinopathies
Newborn Screening for Sickle Cell Disease and Other Hemoglobinopathies
复制标题
新生儿镰状细胞病和其他血红蛋白病筛查
DOI：
10.1542/peds.83.5.813
复制
发表时间：
1989
期刊：
影响因子：
8
通讯作者：
M. Gaston
中科院分区：
文献类型：
--
作者：
D. Wethers;H. Pearson;M. Gaston
血红蛋白病是美国的主要健康问题之一，也是某些人群中最常见的遗传性疾病。仅镰状细胞病（SS、SC、S-β-地中海贫血）就影响大约四分之一的美国黑人新生儿，以及非洲、地中海、亚洲、加勒比、中东、南美和中美洲血统的人。
过去 20 年来，医学界已经知道患有镰状细胞性贫血的儿童更容易受到严重细菌感染，尤其是肺炎链球菌感染。这种微生物引起的严重感染和死亡的风险在出生后的头 3 年内最大，最早可能在 3 个月大时发生。事实上，这种感染可能是疾病的第一个临床表现。这种感染可能是暴发性的，从发烧到死亡只需几小时，据报道病死率高达 30%。
此外，急性脾隔离是另一种急性灾难性事件，会导致镰状细胞性贫血儿童早期死亡，最早可能在 5 个月大时发生。
有人提出，早期诊断以识别患有严重镰状血红蛋白病的婴儿（这些婴儿早期死亡和发病的风险很高）对于制定适当的持续护理和有效的预防和干预措施至关重要。血红蛋白病的早期诊断应在新生儿时期进行。
尽管新生儿期婴儿筛查技术在过去 15 至 20 年间已经出现，但筛查尚未得到广泛接受。
Hemoglobinopathies represent one of the major health problems in the United States and constitute the most common genetic disorders in some populations. Sickle cell disease (SS, SC, S-β-thalassemia) alone affects about one in 400 American black newborns, as well as persons of African, Mediterranean, Asian, Caribbean, Middle Eastern, and South and Central American origins.
For the past 20 years, the medical profession has known that children with sickle cell anemia have an increased susceptibility to severe bacterial infection, particularly due to Streptococcus pneumoniae. The risk of major infection and death posed by this organism is greatest in the first 3 years of life and can occur as early as 3 months of age. In fact, this infection may be the first clinical manifestation of disease. The infection can be fulminant, progressing from the onset of fever to death in a matter of hours, and the case fatality rate is reported as high as 30%.
In addition, acute splenic sequestration, another acute catastrophic event, contributes to early mortality in children with sickle cell anemia and may occur as early as 5 months of age.
It has been proposed that early diagnosis to identify infants with major sickle hemoglobinopathies, who have a high risk of early mortality and morbidity, is essential to institute appropriate ongoing care and effective measures of prophylaxis and intervention. Early diagnosis of hemoglobinopathies should be in the newborn period.
Even though the technology to screen infants in the newborn period has been available for the past 15 to 20 years, screening has not received widespread acceptance.