摘要
目的探讨广东五邑地区人群中国型~Gγ(~Aγδβ)~0地中海贫血的检出率及相关红细胞参数的改变。方法纳入2014年1月至2016年8月,广东省江门市中心医院就诊的8 103例患者的血液样本,采用GapPCR法、反向斑点杂交法进行地中海贫血基因检测,对其分布状况及细胞学参数进行分析。结果在8 103例样本中共检测出中国型~Gγ(~Aγδβ)~0地中海贫血杂合子12例;中国型~Gγ(~Aγδβ)~0地中海贫血纯合子1例,总检出率0.16%;与对照组比较,中国型~Gγ(~Aγδβ)~0地中海贫血患者血液学结果显示红细胞平均体积(MCV)及红细胞平均Hb含量(MCH)均降低,HbF升高,HbA2无差别。结论广东五邑地区中国型~Gγ(~Aγδβ)~0发病率不容忽视,其杂合子临床症状较轻,但当是纯合子时表现为重型地中海贫血。在遗传咨询中临床医生需提高警惕。
Objective To understand the prevalence of Chinese Gγ（Aγδβ）0lassemia in Wuyi region of Guangdong,and to discuss its related red blood cell（RBC）parameter change. Methods Blood samples were collected from 8 103 patients diagnosed in Jiangmen Central Hospital from Jan.2014 to Aug.2016,and the genotype of b-globin gene was determined by Gap-PCR and PCR-reverse dot hybridization. Results Out of8 103 cases,12 cases with heterozygous deletional Chinese Gγ（Aγδβ）0lassemia and 1 case with homozygous deletional Chinese Gγ（Aγδβ）0lassemia were identified with the overall detection rate of 0.16%.Hematology analysis showed that both mean cell volume（MCV）and mean cell hemoglobin（MCH）of RBC from patients with Chinese Gγ（Aγδβ）0lassemia were significantly reduced compared to normal controls The value of HbF increased,while the difference of HbA2 was not statistically significant. Conclusions Patients with Chinese Gγ（Aγδβ）0lassemia do exist in Wuyi region of Gunagdong.Those with heterozygous deletional Chinese Gγ（Aγδβ）0lassemia have mild clinical symptoms,while those with homozygous type are usually severe.
出处
《中国预防医学杂志》
CAS
CSCD
2017年第12期945-948,共4页
Chinese Preventive Medicine
