| Abstrakt: |
Objective To explore the genotype and hematological characteristics of thalassemia in Neijiang area. Methods From January 2016 to November 2018, 226 patients were selected from the obstetric clinic of the hospital for prenatal health examination. The patients were divided into α-thalassemia group (72 cases), β-thalassemia group (72 cases) and control group (82 cases). The changes of mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC) and red blood cell volume distribution width (RDW) coefficient of variation (CV) were compared among the three groups, and the genotype composition of the α-thalassemia group and the β-thalassemia group was analyzed. Results The levels of MCV, MCH and MCHC in the α-thalassemia group and the β-thalassemia group were significantly lower than those in the control group, while the levels of RDW-CV in the β-thalassemia group were significantly higher than those in the control group. In the α-thalassemia group, the most common type of gene deletion was --SEA (73.6%). In the β-thalassemia group, the first three gene mutation types were CD41/42(31.9%), IVS-II-654 (30.6%), CD17(20.8%). Conclusion In Neijiang area, --SEA and CD41/42 are the main mutations of thalassemia gene. The detection of red blood cell related indexes in thalassemia patients can provide certain basis for prenatal diagnosis. [ABSTRACT FROM AUTHOR] |
