Hematologic characteristics comparison of different types of β thalassemia gene mutations

Abstract

Objective To analyze the hematologic characteristics of different types of β thalassemia gene mutations,and to explore the gene mutation types and frequencys of β thalassemia in this region.Methods Reverse dot blot hybridization technique was used to detect the gene mutation types of β thalassemia,and Sysmex XE2100 blood analyzer was used to measure the patients' blood for the red blood cells'characteristics,the experimental datas were analyzed by SPSS statistical software.Resulls Two handred and four cases of various types of β thalassemia gene mutation frequency with the former five were:CD41/42 had 96 cases accounted for 47.1%,IVS-nt654 had 45 cases accounted for 22.1%,CD17 had 21 cases accounted for 10.3%,TATAnt-28 had 21 cases accounted for 10.3%,CD71/72 had 6 cases accounted for 3.0%;In the four indicators of Hematology of β thalassemia,MCV and MCH value were significantly lower than that in control group(P＜0.01),and different types of β thatassemia gene mutations were different from each other in the hematologic characteristics,the MCV and MCH of the β0 thalassemia gene mutations was significantly lower than that of β+ thalassemia gene mutations.Conclusions In this region the gene mutation types and ffequencys of β thalassemia were very close to the Guangdong and the National's;the hematologic characteristics of β thalassemia accorded with small-cell low-hemoglobin anemia,the MCV and MCH could be used as the determination of β thalassemia screening basis. Key words: β thalassemia; Hematology; Gene mutation