Serjeant G R, Serjeant B E, Mason K P, Gibson F, Osmond C, Thein S L, Happich M, Kulozik A E
Sickle Cell Trust, 14 Milverton Cres, Kingston, Jamaica.
MRC Lifecourse Epidemiology Unit, University of Southampton, Southampton, England.
J Community Genet. 2022 Apr;13(2):229-234. doi: 10.1007/s12687-021-00575-8. Epub 2022 Jan 11.
Based in the parish of Manchester in central Jamaica, the Manchester Project offered free detection of haemoglobin genotype to senior classes in 15 secondary schools between 2008 and 2013. Restricting the database to 15,103 students aged 15.0-19.9 years provided an opportunity to examine the red cell characteristics of the different haemoglobin genotypes, including normal (HbAA) in 85.0%, the sickle cell trait (HbAS) in 9.7%, HbC trait (HbAC) in 3.5% and hereditary persistence of foetal haemoglobin (HbA-HPFH) in 0.4%. Compared to the normal HbAA phenotype, HbAS had significantly increased mean cell haemoglobin concentration (MCHC), red cell count (RBC), and red cell distribution width (RDW) and decreased mean cell volume (MCV) and mean cell haemoglobin (MCH), these differences being even more marked in HbAC. Compared to HbAA, the HbA-HPFH had significantly increased RDW, but there were no consistent differences in other red cell indices, and there were no significant differences in haematological indices between the two common deletion HPFH variants, HPFH-1 and HPFH-2. Although these changes are unlikely to be clinically significant, they contribute to an understanding of the haematological spectrum of the common haemoglobin genotypes in peoples of African origin.
曼彻斯特项目位于牙买加中部的曼彻斯特教区,在2008年至2013年期间为15所中学的高年级班级提供免费的血红蛋白基因型检测。将数据库限制为15103名年龄在15.0至19.9岁之间的学生,这为研究不同血红蛋白基因型的红细胞特征提供了机会,其中正常(HbAA)占85.0%,镰状细胞性状(HbAS)占9.7%,HbC性状(HbAC)占3.5%,胎儿血红蛋白遗传性持续存在(HbA-HPFH)占0.4%。与正常的HbAA表型相比,HbAS的平均红细胞血红蛋白浓度(MCHC)、红细胞计数(RBC)和红细胞分布宽度(RDW)显著增加,而平均红细胞体积(MCV)和平均红细胞血红蛋白(MCH)降低,这些差异在HbAC中更为明显。与HbAA相比,HbA-HPFH的RDW显著增加,但其他红细胞指数没有一致的差异,并且两种常见的缺失型HPFH变体HPFH-1和HPFH-2之间的血液学指标没有显著差异。尽管这些变化在临床上不太可能具有显著意义,但它们有助于了解非洲裔人群中常见血红蛋白基因型的血液学谱。