Clin Chem Lab Med. 2014 Dec;52(12):1791-6. doi: 10.1515/cclm-2014-0452.
Sickle cell disease is a major health burden in India. The aim of the study was to compare the diagnostic utility of two different approaches on automated high performance liquid chromatography (HPLC) for newborn screening for sickle cell disorders and other haemoglobinopathies in India.
Newborn babies of sickle heterozygous mothers were tested by HPLC using two different kits, the β-thal short kit, which is routinely used for screening for haemoglobinopathies in most laboratories, and the sickle cell short kit which is specific only for neonatal samples. Confirmation of the sickle and α genotypes was done by molecular analysis.
Of the 601 babies tested, 276 were normal, 284 were sickle heterozygous and 41 were sickle homozygous using the β-thal short kit. Using the sickle cell short kit, a discrepancy was seen in one newborn sample where a normal baby was identified as a sickle heterozygous baby. α-Genotyping was done in 42 babies and 16 of them had α gene deletions. The presence of α thalassaemia could be suspected in 15 of these 16 babies based on a spike at the start of the chromatogram using the β-thal short kit. In comparison, using the sickle cell short kit the diagnosis of α thalassaemia was difficult based on the percentage of the FAST peak. Further, other rare α chain Hb variants were also missed.
The β-thal short kit was more versatile than the sickle cell short kit for screening for haemoglobinopathies in newborns in our population.
镰状细胞病是印度的一个主要健康负担。本研究的目的是比较两种不同方法在自动化高效液相色谱（HPLC）上用于印度新生儿镰状细胞疾病和其他血红蛋白病筛查的诊断效用。
使用两种不同试剂盒（β-地中海贫血短试剂盒，这是大多数实验室用于筛查血红蛋白病的常规试剂盒，以及仅用于新生儿样本的镰状细胞短试剂盒）通过 HPLC 对镰状细胞杂合子母亲的新生儿进行测试。通过分子分析确认镰状和α基因型。
使用β-地中海贫血短试剂盒，在 601 个测试的婴儿中，276 个为正常，284 个为镰状细胞杂合子，41 个为镰状细胞纯合子。使用镰状细胞短试剂盒，一个新生儿样本存在差异，一个正常婴儿被鉴定为镰状细胞杂合子婴儿。对 42 个婴儿进行了α基因分型，其中 16 个有α基因缺失。根据β-地中海贫血短试剂盒起始处的尖峰，可以怀疑其中 15 个婴儿存在α地中海贫血。相比之下，使用镰状细胞短试剂盒，基于 FAST 峰的百分比，很难诊断α地中海贫血。此外，还遗漏了其他罕见的α链 Hb 变体。
β-地中海贫血短试剂盒比镰状细胞短试剂盒更适合我们人群中新生儿血红蛋白病的筛查。
