Investigation and Study on the Present Situation of Genetic Defect Carrying Rate in Unmarried Young Men with Thalassaemia / 现代检验医学杂志

ABSTRACT

Objective To understand the present situation of the rate of carry genetic defect in Unmarried young men with thalassaemia in Shenzhen,which will provide a scientific basis for correct mating.Methods Randomly selected 6 182 cases of unmarried young people from March 2014 to October 2015 to hospital physical examination,Used Sysmex XN-9000 auto-matic blood cell sextant and erythrocyte osmotic fragility test to sccreen preliminarily for globin generation barrier anemia. The average red blood cell volume (MCV)≤82 fl and the average content of red blood cell (MCH)≤27 pg or osmotic fra-gility of red blood cells rate<60% of the population was made hemoglobin electrophoresis analysis.To early screening posi-tive by PCR,it was done reverse dot hybridization method for gene diagnosis,and the results were analyzed.Results 6 182 cases of unmarried young men at the beginning of globin generation barrier anemia screen positive rate was 17.3% (1 069/6 182),including suspectedα-was 12.2% (752/6 182)and suspiciousβ-was 5.1% (317/6 182).Gene diagnosis of globin generation barrier anemia positive rate was 11.6% (717/6 182),theα-was 6.7% (413/6 182),β-was 3.4% (209/6 182) and compoundαβ-was 1.5% (95/6 182).α-genetic defect types were mainly--SEA/αα,-α3.7/ααand-α4.2/ααand defect rate were 60.8%,23.5% and 10.4%,respectively.β-gene defect types are mainly CD41/42,CD17 and-28,defect rate were 41.1%,28.2% and 12.9%,respectively.Conclusion Unmarried young men in shenzhen area globin generation barrier ane-mia has certain carrying rate,local family planning department attaches great importance to it.Strengthen the unmarried young men globin generation barrier anemia screening,to guide the healthy birth mating and prevention of severe pauper’s birth,improve the rate of eugenic and superior nurture,has the vital significance.