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November 20, 2025Nature CommunicationsOpen Access

Multi-centric origins and gene flow shape the diversity of β-thalassemia mutations in Southern East Asia

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Authors

QZQianqian ZhangJLJialong LiHHHaoyang Huang

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Implication

Targeted sequencing reveals diverse β-thalassemia mutations in southern China, suggesting agricultural expansions shape genetic diversity.

Key Points

  • To investigate the origins and evolution of β-thalassemia mutations in Southern East Asia.
  • Targets sequencing of 20,222 individuals and 510 β-thalassemia patients.
  • Identified three major haplotype groups at the β-globin locus.
  • Conducted network analyses for mutation dissemination patterns.
  • Identified highest haplotype diversity for CD41/42, -50, and HbE among carriers.
  • Mutations emerged during agricultural expansions over the last 7420 years.
  • Evidence of lineage-specific selection and bidirectional gene flow with South/Southeast Asia.

Cite This Study

Zhang et al. (2025) studied this question.

synapsesocial.com/papers/6924f07ac0ce034ddc34feb6https://doi.org/10.1038/s41467-025-65019-0
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1The spectrum of beta-thalassemia genes in China and Southeast Asia1986 · 80 citations
  2. 2A Decade‑Long Genetic Epidemiological Profile of Thalassemia in the Childbearing‑Age Population of Huizhou, a Major Hakka Center in Guangdong, China2026
  3. 3A simple approach to prenatal diagnosis of beta-thalassemia in a geographic area where multiple mutations occur1988 · 45 citations
  4. 4Genetic analysis of thalassemia in putian: comparative insights into mutation spectra with other global regions2025
  5. 5Molecular Characterization of α‐ and β‐Thalassemia Among Children Less Than 18 Years Old in Guizhou, China2024 · 5 citations