Results and significance of genetic screening for thalassaemia in sperm donors
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 which α-alpha accounted for 95.65% (22/23):including α alpha/α-3.712 cases of α alpha/αWSα6,3 cases of α alpha/αCSα,and 1 case of α alpha/α-4.2,all of which were stationary α-alpha;of which β-alpha anemia accounted for 4.35% (1/23) and the genotype was-72M/N,which was a mild β-alpha anemia.Among the cases with abnormal genes,stationary α-alpha anemia was predominant,and the highest rate of detection was α alpha/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.