Analysis of thalassemia gene screening in 1071 cases
CHEN Yu-hua1 ZHOU Bi-yun2 LIANG Si-si3 WU Xian-jin1 LI Hai-yan1
1.Department of Clinical Laboratory,Affiliated Hospital of Guangdong Medical University,Zhanjian 524001,China;
2.Interventional Ward,Affiliated Hospital of Guangdong Medical University,Zhanjiang 524001,China;
3.Department of First Ward Orthopedic,Affiliated Hospital of Guangdong Medical University,Zhanjian 524001,China
Abstract：ObjectiveTo investigate the genetic heterogeneity of thalassemin of patients in our hospital and the diagnostic value of mean corpuscular volume(MCV)and mean corpuscular hemoglobin(MCH)in thalassemia screening.MethodsFrom December 2015 to September 2016,1071 patients with thalassemia in our hospital were selected,gap-PCR and polymerase chain reaction-reverse dot blot(PCR-RDB)were used to test α-thalassemia gene and β-thalassemia gene,hematology analyzer was used to test mean corpuscular volume (MCV)and mean corpuscular hemoglobin(MCH)of 904 patients.Results①Among the 1071 cases,556 cases was male and 515 cases was female,the positive rate of thalassemia was 41.37%(230 cases)for male and 46.21%(238 cases)for female,which was displayed no statistical differences in the two groups(χ2=2.55,P>0.05).②During different group such as children group(0-16 years old, 360 cases),adult group(17-49 years old,651 cases)and senior group(≥ 50 years old,60 cases),the positive rate of thalassemia was 48.33%(174 cases),42.7%(278 cases)and 26.67%(16 cases),respectively,which was displayed statistical differences among the groups(χ2=10.48,P<0.01).③among 1071specimens,293 cases(27.36%)were diagnosed as α-thalassemia and 157 cases(14.66%)were diagnosed as β-thalassemia.Among the α-thalassemia genotypes,αα/--SEA,-α3.7/αα,αα/-α4.2 were the most common genotypes(93.86%);among the β-thalassemia genotypes,CD41-42,IVS-Ⅱ-654,-28,CD71-72,CD17werethemostcommon genotypes(82.81%);18 cases(1.68%)were diagnosedas α-thalassemia combined with β-thalassemia.④The diagnostic sensitivity of MCV for α-thalassemia,β-thalassemia and αβ-thalassemia screening were 91.18%,99.21%and 92.31%,respectively,and 54.18%for the diagnostic specificity. The diagnostic sensitivity of MCH for α-thalassemia,β-thalassemia and αβ-thalassemia screening were 94.12%, 99.21%and 100.00%,respectively,and 51.90%for the diagnostic specificity.The diagnostic sensitivity of MCV+MCH for α-thalassemia,β-thalassemia and αβ-thalassemia screening were 89.08%,99.21%and 84.62%,respectively,and 49.24%%for the diagnostic specificity.There was no significant difference in the sensitivity and specificity between MCV and MCH(χ2=1.77,P>0.05;χ2=0.55,P>0.05).Conclusionαα/-SEA genotype and βCD41-42 genotype are the most common type in α-thalassemia and β-thalassemia in 1071 patients with thalassemia,it is reasonable to screening the thalassemia by MCV combine with MCH.
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