捐精志愿者地中海贫血基因筛查结果与意义  

Results and significance of genetic screening for thalassaemia in sperm donors

作　　者：梁乐 何思远 王志强[1] 覃敏[1] 黄燕梅 余政礼 丘玉铃 吴永明[1] Liang Le;He Siyuan;Wang Zhiqiang;Qin Min;Huang Yanmei;Yu Zhengli;Qiu Yuling;Wu Yongming(Human Sperm Bank,The First Affiliated Hospital of Guangxi Medical University,Nanning 530021,Guangxi,China;Key Laboratory for Thalassemia Prevention and Control of Guangxi,Nanning 530021,Guangxi,China)

机构地区：[1]广西医科大学第一附属医院人类精子库,广西南宁530021 [2]广西地中海贫血防治重点实验室,广西南宁530021

出　　处：《中国男科学杂志》2024年第6期43-47,共5页Chinese Journal of Andrology

基　　金：广西自然科学基金(2018GXNSFAA050115)。

摘　　要：目的探讨地中海贫血(以下简称“地贫”)基因筛查在人类精子库捐精志愿者遗传筛选中的必要性。方法回顾性分析广西医科大学第一附属医院人类精子库443例捐精志愿者的一般资料及地贫基因筛查结果。结果342例血常规红细胞平均体积(MCV)、红细胞平均血红蛋白含量(MCH)均正常的捐精志愿者中,地贫基因异常检出率为6.73%(23/342),其中α地贫占95.65%(22/23):αα/α^(-3.7)12例、αα/α^(WS)α6例、αα/α^(CS)α3例和αα/α^(-4.2)1例,均为静止型α地贫;β地贫占4.35%(1/23),基因型为-72M/N,为轻型β地贫,地贫基因异常者中以静止型α地贫为主,尤以αα/α^(-3.7)检出率最高。101例血常规MCV、MCH水平降低的捐精志愿者中地贫基因异常检出率为98.02%(99/101),血常规MCV和MCH降低组的捐精志愿者地贫基因异常检出率高于MCV和MCH正常组(P<0.01)。结论在捐精志愿者遗传筛查中,血常规联合地贫基因检测可检出无症状地贫基因携带者。Objective To explore the necessity of thalassemia(hereinafter referred to as“thalassemia”)genetic screening in the genetic screening of sperm donor volunteers registered in human sperm bank.Methods The general data and the results of thalassemia genetic screening of 443 sperm donor volunteers in the First Affiliated Hospital of Guangxi Medical University were retrospectively analyzed.Results Among the 342 sperm donor with normal mean red blood cell volume(MCV)and normal mean red blood cell hemoglobin content(MCH),the abnormality detection rate of the anemia gene was 6.73%(23/342),of whichα-alpha accounted for 95.65%(22/23):includingαalpha/α^(-3.7)12 cases ofαalpha/α^(WS)α6,3 cases ofαalpha/α^(CS)α,and 1 case ofαalpha/α^(-4.2),all of which were stationaryα-alpha;of whichβ-alpha anemia accounted for 4.35%(1/23)and the genotype was-72M/N,which was a mildβ-alpha anemia.Among the cases with abnormal genes,stationaryα-alpha anemia was predominant,and the highest rate of detection wasαalpha/α^(-3.7).The detection rate of gene abnormality in sperm donor volunteers with lower blood MCV and MCH levels was 98.02%(99/101),and the detection rate of gene abnormality in sperm donor volunteers with lower levels of blood MCV and MCH was higher than that in the group with normal levels of MCV and MCH(P<0.01).Conclusion In the genetic screening of sperm donor volunteers,routine blood test combined with anemia gene analysis can determine a small number of asymptomatic carriers of the anemia gene.

关 键 词：精子库 捐精志愿者 地中海贫血 基因检测 

分 类 号：R596.2[医药卫生—内科学] R321.1[医药卫生—临床医学]