摘要
目的探讨惠州地区人群中国型 ~Gγ(~Aγδβ)~0地中海贫血的检出率及临床特征,分析其意义及完善地贫防控内容。方法 2015年1月至2016年12月,对参加惠州市孕前和孕期优生健康检查育龄夫妇的24 137例血液样本行血常规及血红蛋白电泳检测,并应用液相芯片、导流杂交技术对检出结果分析为可疑地中海贫血样本及产前363例羊水样本进行地中海贫血基因检测,对于疑为β地中海贫血但未检出者加用Gap-PCR技术检测中国型 ~Gγ(~Aγδβ)~0地中海贫血缺失型基因。结果在290例加测样本中检出中国型 ~Gγ(~Aγδβ)~0杂合子29例,中国型 ~Gγ(~Aγδβ)~0地中海贫血复合α地中海贫血4例,总检出率为0.14%。血常规结果显示血红蛋白正常为26例,轻度下降为7例;红细胞平均体积(mean corpuscular volume,MCV)及红细胞平均血红蛋白含量(mean corpuscular hemoglobin,MCH)均降低;血红蛋白电泳结果显示Hb A2正常或轻度降低,Hb F升高为(14.56±5.43)%。检出4例为夫妻同型β地贫携带者,行产前诊断,一例胎儿基因型为β^(-28)杂合突变复合中国型 ~Gγ(~Aγδβ)~0杂合缺失,其中国型 ~Gγ(~Aγδβ)~0基因遗传自母方,β^(-28)基因遗传自父方,终止妊娠。结论惠州地区人群的中国型 ~Gγ(~Aγδβ)~0携带率高,中国型 ~Gγ(~Aγδβ)~0携带者的临床特征为MCV、MCH降低的基础上Hb F值明显升高;中国型 ~Gγ(~Aγδβ)~0属缺失型β地中海贫血类型,当其有可能与β地中海贫血复合存在时,应进行产前诊断,防止中重型地贫患儿出生。
Objective To Explore the gene frequency and clinical features of Chinese Gγ（Aγδβ）0-thalassemia in Huizhou, to analyze its significance and improve the prevention and control of thalassemia.Methods From January 2015 to December 2016, a total of 24 137 blood samples were collected from couples of childbearing age who participated in the pre-pregnant and prenatal healthy births in Huizhou city and analyzed by using blood routine test and hemoglobin electrophoresis as suspicious thalassemia screening. 363 amniotic fluid samples were detected by the liquid phase chip and diversion hybridization technique for thalassemia simultaneously. Further, the Gap-PCR technique was used to detect the gene of deletional Chinese Gγ（Aγδβ）0-thalassemia for undetected patients with suspected β-thalassemia. Results 29 cases of Chinese Gγ（Aγδβ）0 heterozygotes and 4 cases of Chinese Gγ（Aγδβ）0-thalassemia accompanied by α-thalassemia were identified in 290 samples with the total detection rate of 0.14%. The blood routine test results showed that there were 26 cases of normal hemoglobin, and 7 cases of slight decrease. The mean corpuscular volume（MCV） and the mean corpuscular hemoglobin（MCH） were decreased. The results of hemoglobin electrophoresis showed that Hb A2 was normal or slight decrease, with the Hb F increased to（14.56±5.43）%. 4 cases of couples with the same genotypes of thalassemia were taken by prenatal diagnosis. One Case fetal abnormal genotype was Chinese Gγ（Aγδβ）0-thalassemia accompanied by β-28. The Chinese Gγ（Aγδβ）0 gene inherited from mother and the β-28 gene inherited from father and this pregnancy was terminated.Conclusion The incidence of Chinese type Gγ（Aγδβ）0-thalassemia in Huizhou area is high. The clinical features of Chinese type Gγ（Aγδβ）0-thalassemia carriers have both MCV and MCH decrease and Hb F increase.The Chinese type Gγ（Aγδβ）0 belongs to the deletional β-thalassemia. The prenatal diagnosis should be performed to prevent the birth of children with moderate or severe thalassemia when the Chinese Gγ（Aγδβ）0-thalassemia is accompanied by α-thalassemia.
出处
《分子诊断与治疗杂志》
2017年第6期396-400,407,共6页
Journal of Molecular Diagnostics and Therapy
