深圳地区血红蛋白Q-Thailand的表型和基因型分析

Phenotype and genotype analysis of hemoglobin Q-Thailand in Shenzhen

目的分析深圳地区血红蛋白(Hb)Q-Thailand的基因型和表型的关系,为Hb疾病的筛查提供参考数据。方法收集该院72397例标本,分为成年男性、成年女性及新生儿,采用毛细管电泳法对Hb Q-Thailand进行筛查,对筛查阳性者采用Sanger测序法进行DNA测序鉴定,采用跨越断裂点PCR法和PCR结合反向点杂交法进行珠蛋白生成障碍性贫血基因分型检测,并分析其红细胞参数。结果深圳地区人群Hb Q-Thailand的携带率为0.039%。成年男性Hb Q-Thailand合并-α4.2杂合缺失的Hb、平均红细胞体积(MCV)、平均红细胞血红蛋白量(MCH)、Hb Q-Thailand和HbA2+变异体分别为(144.0±5.0)g/L、(80.7±2.1)fL、(27.1±0.1)pg、(26.6±3.3)%和(2.3±0.3)%;成年女性分别为(121.0±13.2)g/L、(76.7±3.1)fL、(25.7±1.6)pg、(28.5±0.9)%和(2.5±0.3)%;新生儿Hb电泳分析结果为HbA(13.7±4.1)%、HbF(64.9±4.1)%、Hb Q-Thailand(21.0±2.7)%和Hb Bart′s(0.4±0.1)%。结论深圳地区Hb Q-Thailand以杂合子常见,并与-α4.2缺失型珠蛋白生成障碍性贫血连锁遗传,临床需重视其表型与基因型的规律,以进行产前筛查和遗传咨询。

Objective To analyze the relationship between the genotype and phenotype of hemoglobin(Hb)Q-Thailand in Shenzhen,and to provide reference data for screening of Hb diseases.Methods A total of 72397 specimens from this hospital were collected and divided into adult male,adult female,and newborn.Hb Q-Thailand was screened by capillary electrophoresis,and Sanger sequencing was used to identify the positive screeners.And cross-breakpoint PCR and PCR combined with reverse-point hybridization were used to perform genotyping of globin-producing anemia,and the red blood cell parameters were analyzed.Results The carrier rate of Hb Q-Thailand in Shenzhen population was 0.039%.Adult man Hb Q-Thailand combined-α4.2 heterozygous deletion of Hb,mean corpuscular volume(MCV),mean corpuscular hemoglobin(MCH),Hb Q-Thailand and HbA2+variants were(144.0±5.0)g/L,(80.7±2.1)fL,(27.1±0.1)pg,(26.6±3.3)%and(2.3±0.3)%,respectively;adult women were(121.0±13.2)g/L,(76.7±3.1)fL,(25.7±1.6)pg,(28.5±0.9)%and(2.5±0.3)%;Hb electrophoresis analysis of newborns was HbA(13.7±4.1)%,HbF(64.9±4.1)%,Hb Q-Thailand(21.0±2.7)%and Hb Bart′s(0.4±0.1)%.Conclusion Hb Q-Thailand in Shenzhen is commonly heterozygous and linked to-α4.2 deficient globin-generating disorder anemia.The clinical need to pay attention to the phenotype and genotype rules for prenatal screening and genetic consultation.