ABSTRACT
Objective To analyzed distribution characteristics of gene mutation and gene carrying rate of thalassaemia in Shenzhen.Methods 2 500 cases with adult,neonatal umbilical cord blood of 2 500 cases for alpha thalassaemia,beta thalas-saemia,gene types and carry frequency were analyzed.Results 8 types of alpha thalassemia gene 128 cases,rate of detection was 5.12% (128/2 500),and the main genetic types were-SEA/αα(54 cases,42.19%),-SEA/-α3.7 (32 cases,25%)respec-tively.2 500 cases of adult samples were checked out 7 types of gene mutation 101 cases,and detection rate was 4.04%(101/2 500).Main gene mutation type were CD41-42 (39 cases,38.61%),IVS-2-654 (20,21 cases,79%),CD17 (18 cases, 17.82%)and-28 (13 cases,12.87%)respectively.Conclusion Shenzhen thalassaemia mutation type and frequency had ob-vious regional characteristics and times characteristics,health authorities should strengthen epidemiology study,formulate corresponding prevention and intervention measures.