[Clinical Analysis of Children with Thalassemia in Chongqing]

To analyze the genotype distribution and hematological characteristics of children with thalassemia in Chongqing.

A total of 207 children with thalassemia admitted to Chongqing University Three Gorges Hospital from January 2021 to October 2022 were selected as the research objects. The genotype distribution and hematological characteristics were retrospectively analyzed.

207 cases of thalassemia were confirmed from 482 samples by gene detection, the detection rate was 42.95%, α-thalassemia accounted for 17.63%(85/482), β-thalassemia accounted for 24.27%(117/482), and compound αβ thalassemia accounted for 1.04%(5/482). A total of 5 gene mutation types of α-thalassaemia were detected in this study, which constituted 6 genotypes, αα/-SEA was the most common one, followed by αα/-α. A total of 8 gene mutation types of β-thalassemia were detected, which constituted 9 genotypes, the top three were CD17/N, CD654/N and CD41-42/N. The highest detection rate was found in the patients aged 0-3 years (57%), and the degree of anemia was mainly mild (88.41%). 97.58% of the patients were MCV< 80 fl, 98.55% were MCH< 28 pg, 60.87% were MCHC< 320 g/L, and 71.50% were RDW-SD < 37%. The MCV and MCH of β-thalassemia group were lower than that of α-thalassemia group, and the MCHC was higher than that of α-thalassemia group (P <0.05), but RDW-SD was not significantly different between the two groups (P >0.05). There were no significant differences in MCV, MCH, MCHC and RDW-SD between β and β groups ( P >0.05). The MCV and RDW-SD of --/αα thalassemia group were lower than that in -α/αα thalassemia group, the differences were statistically significant (P < 0.05), but MCH and MCHC were not significantly different between the two groups (P >0.05).

The genotypes of children with thalassemia in Chongqing are diverse and heterogeneous, and the majority of them are mild anemia. There are differences in haematological indexes among different genotypes of thalassemia.