血红蛋白病筛查：镰状细胞病卓越中心的初步经验
Screening for Hemoglobinopathies: An Inceptive Experience of Centre of Excellence for Sickle Cell Disease.
作者信息
Vishnoi Anita, Jyani Ritvika, Sharma Ayushi, Poswal Lakhan, Goyal Shuchi, Swami Shelesh Kumar, Chauhan Nitesh Kumar
机构信息
Department of Pediatrics, RNT Medical College, Udaipur, Rajasthan, 313001, India.
Centre of Excellence for Sickle Cell Disease, RNT Medical College, Udaipur, Rajasthan, India.
出版信息
Indian Pediatr. 2025 Sep 8. doi: 10.1007/s13312-025-00178-3.
OBJECTIVE
To estimate the prevalence of various hemoglobinopathies among newborns, women in antenatal clinic and children presenting with signs and symptoms suggestive of sickle cell disease (SCD).
METHODS
A hospital-based prospective study was conducted at a Centre of Excellence for SCD (COESCD). Dried blood spot (DBS) samples were collected for newborn screening using heel-prick and venous samples were used in the post-neonatal age group. Hemoglobin variant analysis was performed using high-performance liquid chromatography (HPLC).
RESULTS
Out of 26,642 neonates screened, 1.87% (n = 498) were found to have abnormal hemoglobin patterns. The prevalence of hemoglobin variants detected among women screened during antenatal check-up and children with signs and symptoms of SCD were found to be 6.11% and 22.69%, respectively.
CONCLUSION
Intensive screening programs have led to detection of a large number of cases with hemoglobinopathies including rare hemoglobin variants.
目的
评估新生儿、产前门诊妇女以及出现镰状细胞病（SCD）体征和症状的儿童中各种血红蛋白病的患病率。
方法
在一个镰状细胞病卓越中心（COESCD）开展了一项基于医院的前瞻性研究。采用足跟采血收集干血斑（DBS）样本用于新生儿筛查，在新生儿期后年龄组使用静脉血样本。使用高效液相色谱法（HPLC）进行血红蛋白变异体分析。
结果
在筛查的26642例新生儿中，发现1.87%（n = 498）有异常血红蛋白模式。在产前检查期间筛查的妇女以及有SCD体征和症状的儿童中检测到的血红蛋白变异体患病率分别为6.11%和22.69%。
结论
强化筛查项目已导致检测出大量血红蛋白病病例，包括罕见的血红蛋白变异体。
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