Analysis on hematological phenotype and genotype of α-thalassemia / 国际检验医学杂志

ABSTRACT

Objective To analyze the genotype distribution characteristics in the patients with α-thalassemia and the relationship between hematological phenotype and genotype .Methods 209 cases of α-thalassemia in our hospital from August to October 2016 were selected and divided into the silence type group (58 cases) ,standard type group(138 cases) ,intermediate type group(4 cases) and non-deletion type group(9 cases) .Contemporaneous 25 subjects undergoing healthy physical examination were selected as the normal control group .The automatic capillary electrophoreses was adopted to detect HbA 2 .The hematological indicators of MCV , MCH and MCHC were detected by using the automatic blood cells analyzer .Results Among 209 cases ofα-thalassemia ,8 mutation genotypes were detected ,in which - - SEA/αα deletion type accounted for 66 .03% ,- α3 .7/αα deletion type accounted for 22 .97% .The levels of MCV ,MCH and MCHC in the silence type group ,intermediate type group ,standard type group and non-de-letion type group was significantly lower than that in the normal control group ,the difference was statistically significant ( P<0 .05) ,the HBA2 level in the intermediate type group was lower than that in the normal control group ,the difference was statisti-cally significant (P<0 .05) ,but the HbA2 level had no statisticval difference between the silence type group ,standard type group and non-deletion type group with the normal control group(P>0 .05) .Conclusion The gene mutation in the patients with α-thalas-semia in Luohu District of Shenzhenis City is dominated by the deletion type of - -SEA/αα.The hematological indicators such as MCV ,MCH and MCHC can serve as the combined screening indexes of α-thalassemia ,but for the patients with -α3 .7/ααgenotypeα-thalassemia ,there is the possibility of missed diagnosis .