Analysis of genetic test results in 378 patients suspected of thalassaemia

To analyze the genetic test results of 378 patients suspected of thalassemia.

378 suspected thalassemia patients in Shaoxing People's Hospital from 2014 to 2020 were selected and venous blood was tested using Gap-PCR and PCR-reversed dot blottin. The distribution of genotypes and other information of gene-positive patients was observed.

Thalassemia genes were detected in 222 cases, with an overall detection rate of 58.7%, of which 41.4% were α deletion type, 1.35% were α dot, 52.7% were α thalassemia, and 4.5% were αβ complex type. Among the 86 people with provincial household registration, the α-thalassemia gene accounted for 65.1% and the β-thalassemia gene accounted for 25.6%. Follow-up found that Shaoxing nationality accounted for 53.1% of positive patients, of which β-thalassemia gene accounted for 72.9% and α-thalassemia gene accounted for 25.4%; other cities in the province accounted for 8.1% of the total. Other provinces and cities accounted for 38.7%, most of which were from Guangxi and Guizhou. Among all positive patients, the most common α-thalassemia genotypes were --sea / αα, --α / αα,--α 3.7 4.2 / αα , --α3.7 / --sea. The most common mutations in β-thalassemia were IVS-II-654, CD41-42, CD17 and CD14-15.

The thalassemia gene carrier status was sporadically distributed outside the traditional thalassemia high prevalence areas. The local population in Shaoxing has a high detection rate of thalassemia genes, and the genetic composition is different from the traditional high prevalence area of thalassemia in the south.