Analysis of phenotypes of Hb J-Bangkok and concomitant thalassemia / 中华医学遗传学杂志

OBJECTIVE@#To analyze the hematological phenotypes of Hb J-Bangkok and concomitant thalassemia.@*METHODS@#In total 72 397 samples were screened by using capillary electrophoresis. Samples with Hb J-Bangkok were identified by DNA sequencing and analysis of red blood cell parameters. Gap-PCR and PCR-reverse dot blotting (PCR-RDB) were used for analyzing the thalassemia genes.@*RESULTS@#Thirty one cases of Hb J-Bangkok were identified, all of which were heterozygotes. The hematological phenotype index (Hb, mean corpuscular volume, mean corpuscular hemoglobin, Hb J-Bangkok, Hb A@*CONCLUSION@#Hb J-Bangkok heterozygotes have normal hematological phenotypes, though they may show different hematological characteristics when concomitant with different types of thalassemia, for which genetic counseling should be provided accordingly.

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

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 .