Description: Beta-thalassemia is a severe, hereditary blood disorder that can be life-threatening and disabling, posing a significant threat to human health. It is widely distributed in tropical and subtropical regions across the globe. This project aims to collect blood, urine, saliva, and clinical history data from 1,020 beta-thalassemia cases and 409 carriers in high-prevalence regions of southern China. Key clinical phenotypic data will be obtained through measurements of routine blood tests, hemoglobin analysis, iron metabolism, coagulation function, blood glucose, insulin, C-peptide, upper abdominal ultrasound, echocardiography, enhanced upper abdominal MRI, serum proteomics, plasma proteomics, serum metabolomics, urine metabolomics, scleral features, and more. Additionally, whole-genome sequencing is performed on the peripheral blood DNA of these individuals. Given the high genetic heterogeneity and diverse clinical phenotypes associated with the same pathogenic genotypes of beta-thalassemia, this study will dissect the genetic architecture and patient-specific genome, which allows for comprehensive interpretation of individual complex phenotypes. The study will also assess the contribution and effectiveness of candidate molecular biomarkers and genetic variants to the clinical phenotypes of patients. This will provide population evidence to support the development of precise prevention and therapeutic strategies for beta-thalassemia and identify new targets for drug development.

Data type: Genome sequencing; Phenotype or Genotype; Variation

Sample scope: Monoisolate

Release date: 2025-06-30

Last updated: 2025-06-30