# The distribution and spectrum of thalassemia variants in GUIYANG region, southern China

## TL;DR

This study analyzed thalassemia gene testing results in Guiyang, southern China, finding high prevalence among Han ethnic groups and identifying new thalassemia variants.

## Contribution

The study identified previously undocumented thalassemia variants and detailed their regional and ethnic distribution in southern China.

## Key findings

- 1401 individuals tested positive for thalassemia out of 20,478 tested in the region.
- New thalassemia variants were discovered that had not been previously documented in medical literature.
- The Han ethnic group showed the highest prevalence of thalassemia in the study area.

## Abstract

Thalassemia is one of southern China’s most common inherited disorders. This retrospective study analyzed the results of thalassemia gene testing conducted on 20,478 individuals from January 1, 2019, to April 31, 2024 in the First Affiliated Hospital of Guizhou University of Traditional Chinese Medicine. The cohort consisted of 19,733 females and 745 males, with 1401 individuals testing positive for thalassemia. Among the positive cases, 942 had α thalassemia, 431 had β thalassemia, and 25 had variants in both α and β thalassemia genes. Interestingly, a subgroup of individuals with thalassemia variants not previously documented in medical literature was identified. The study highlighted the prevalence of thalassemia among different ethnic groups, with individuals of Han ethnicity being the most affected. Geographical analysis revealed a concentration of cases in Guizhou Province, particularly in Guiyang city, Bijie, and Qiannan Prefecture. These findings provide valuable insights into the epidemiology of thalassemia in the region and the distribution of affected individuals.

The online version contains supplementary material available at 10.1186/s13023-025-03569-8.