Epidemiological and Gene Mutation Type and Frequency Analysis of Thalassaemia in Shenzhen

VernacularTitle:深圳市珠蛋白生成障碍性贫血流行病学调查及基因突变类型与频率分析
Author: Li ZHANG ; Weizhong HUANG ; Jingyun TANG ; Guozhen HUANG ; Guoyong YE
Publication Type:Journal Article
Keywords: thalassaemia; gene mutation; epidemiology; gene frequencies
From: Journal of Modern Laboratory Medicine 2015;(4):71-73
CountryChina
Language:Chinese
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.