摘要
目的报道我国首例异常血红蛋白合并东南亚缺失型地中海贫血的病例1例。方法在产前筛查中发现1例血红蛋白分析异常峰,即运用西森美康XN 1000进行血细胞分析、高效液相色谱法进行血红蛋白组分分析、采用聚合酶链反应(polymerase chain reaction,PCR)结合反向点杂交技术诊断及跨越断裂点的聚合酶链反应技术进行地中海贫血基因型分析、运用基因测序对异常血红蛋白突变位点进行测序。结果红细胞计数为7.29×1012/L,血红蛋白浓度为148.0 g/L,红细胞平均体积60.62 fL,红细胞平均血红蛋白量为20.32 pg;高效液相色谱法分析血红蛋白组分结果为血红蛋白A20.5%,血红蛋白F 0.2%,血红蛋白A 41.9%,D窗发现异常血红蛋白变异体46.1%;地贫基因型为东南亚缺失型地中海贫血;异常血红蛋白基因测序显示该患者α2基因的第75个密码子发生突变,有天冬氨酸变为天冬酰胺,即HbMatsue-Oki。结论该异常血红蛋白HbMatsue-Oki病例为我国首例发现并报道,其合并东南亚缺失型地中海贫血时未加重原有的表型。
Objective To report the first case of hemoglobin complicated with Southeast Asian deficient thalassemia in China.Methods One abnormal peak of hemoglobin was found in prenatal screening analysis.abnormal peak,namely using the west’s beautiful health XN 1000 blood cell analysis,high performance liquid chromatography(HPLC)method for analysis of hemoglobin,using polymerase chain reaction(PCR)combined with reverse dot hybridization(PCR-RDB)technology diagnosis and cross breaking point of polymerase chain reaction(Gap-PCR)technology to the Mediterranean lean genotype analysis,using the gene sequencing to sequencing abnormal hemoglobin mutations.Results Blood cell analysis results RBC count was 7.29×1012/L,Hb concentration was 148.0 g/L,average RBC volume(MCV)was 60.62 fL,mean Hb volume(MCH)20.32 pg;The results of Hb component analysis were as follows:Hb A2 was 0.5%,Hb F was 0.2%,Hb A was 41.9%,and abnormal Hb wariants found in window D were 46.1%;The thalassemia gene is the Southeast Asian deletion thalassemia.Sequencing of the abnormal hemoglobin gene revealed that the patient had a mutation in the 75 th codon of theα2 gene,changing from aspartic acid to asparagine,or Hb Matsue-Oki.Conclusion This case of abnormal hemoglobin mutation Matsue-Oki was found and reported for the first time in China,and its combination with Southeast Asian deficient thalassemia did not aggravate the original phenotype.
作者
潘慧娟
吴爱金
杨兴龙
PAN Huijuan;WU Aijin;YANG Xinglong(Clinical Laboratory of Laibin City Maternal and Child Health Hospital,Laibin,Guangxi 546100,China;Affiliated Cancer Hospital and Institute of Guangzhou Medical University,Guangzhou,Guangdong 510095,China)
出处
《中国优生与遗传杂志》
2021年第8期1144-1146,共3页
Chinese Journal of Birth Health & Heredity
