摘要
目的探讨中国人β地中海贫血CD37(TGG→TAG)突变类型的血液学特点,为临床诊断和遗传咨询提供指导。方法对于产前地中海贫血筛查结果提示为β地中海贫血突变携带者的病例采用液相芯片法及β珠蛋白基因DNA测序方法进行基因诊断,并对检测到CD37(TGG→TAG)突变的携带者病例进行回顾性血液学特点分析。结果共检出12例β地中海贫血CD37(TGG→TAG)突变阳性病例,其中11例为单纯杂合子,1例为杂合子合并(--SEA/)型α地中海贫血杂合缺失,未检出该突变纯合子病例。结论β地中海贫血CD37(TGG→TAG)突变导致β0地中海贫血,其杂合子多有轻度贫血或无贫血症状,极个别病例表现中度贫血。杂合子合并(--SEA/)型α地中海贫血杂合缺失的血液学表型与单纯CD37(TGG→TAG)突变杂合子类似,未有明显减轻其临床表型的作用。
Objective To analyze the hematological features of Chinese people with CD37(TGG→TAG)mutation and to offer advice for thalassemia diagnosis and genetic counseling.Methods Liquid chip method and gene sequencing were used to determine the genotypes of the samples which suspected ofβ-thalassemia.A retrospective analysis of hematological features for the cases with CD37(TGG→TAG)mutation was reviewed.Results Twelve cases were identified as heterozygote for CD37(TGG→TAG)mutation,including one case co-inherited with Southern Asianα-thalassemia deletion(--SEA/αα).No homozygous cases were detected.Conclusion Patients with CD37(TGG→TAG)mutation are associated with a phenotype ofβ0-thalassemia.Most of the heterozygote presented with mild anemia or asymptomatic.Only rare cases have features of intermedia phenotype.The presence of(--SEA/αα)mutation in a heterozygous individual could not ameliorate the clinical symptoms.
作者
秦丹卿
姚翠泽
王继成
梁杰
包秀琴
杜丽
Qin Danqing;Yao Cuize;Wang Jicheng;Liang Jie;Bao Xiuqin;Du Li(Medical Genetics Center of Guangdong Women and Children Hospital,Guangzhou 511442,China;Maternal and Children Metabolic-Genetic Key Laboratory of Guangdong,Guangzhou 511442,China)
出处
《中国产前诊断杂志（电子版）》
2020年第3期40-42,共3页
Chinese Journal of Prenatal Diagnosis(Electronic Version)
