Analysis on gene detection in 5 500 cases of thalassemia in Huizhou region / 重庆医学

ABSTRACT

Objective To use the genetic diagnosis technique to perform the gene detection in the patients with thalassemia for understanding the main gene mutation types and their gene frequencies .Methods Totally 5 500 outpatients and individuals un‐dergoing physical examination in the hematology department of the Huizhou Municipal Central People′s Hospital from January 2010 to October 2014 were taken as the research subjects .The GAP‐PCR and membrane reverse hypridition technology were adopted to conduct the gene analysis of α‐andβ‐thalassemia .Results A total of 1 604 cases ofα‐globin gene change were detected ,accounting for 29 .16% of the total detected subjects ;1 096 cases ofβ‐globin gene change were detected ,accounting for 19 .93% of the total de‐tected subjects ;119 cases of αβ‐complex thalassemia were detected .Conclusion The gene screening of α‐ and β‐ thalassemia pro‐vides the valuable basic data for conducting the marital and fertility instructions .