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October 1, 1986Blood

The spectrum of beta-thalassemia genes in China and Southeast Asia

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Authors

HKHH Jr KazazianJohns Hopkins UniversityCDCE DowlingState University of New YorkPWPG WaberThe University of Texas Southwestern Medical Center

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Implication

Randomized trial explores prenatal diagnosis methods for beta-thalassemia in China and Southeast Asia, suggesting feasibility of simplified techniques.

Key Points

  • The aim is to enable prenatal diagnosis of beta-thalassemia by identifying the spectrum of mutations in the region.
  • Analyzed 78 beta-thalassemia genes from Chinese and Southeast Asians.
  • Characterized mutations in 76 (98%) of the genes.
  • Identified seven different point mutations contributing to the disorder.
  • Four alleles account for 91% of the mutant genes identified.
  • Two mutations make up 62% and two others 29% of the total mutations.
  • Indicates feasibility of prenatal diagnosis through simplified techniques.

Cite This Study

Kazazian et al. (1986) studied this question.

synapsesocial.com/papers/6a6fb52a5d37378ac1dcc4aahttps://doi.org/10.1182/blood.v68.4.964.bloodjournal684964
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Also Consider

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

  1. 1A simple approach to prenatal diagnosis of beta-thalassemia in a geographic area where multiple mutations occur1988 · 45 citations
  2. 2Multi-centric origins and gene flow shape the diversity of β-thalassemia mutations in Southern East Asia2025
  3. 3Molecular Characterization of α‐ and β‐Thalassemia Among Children Less Than 18 Years Old in Guizhou, China2024 · 5 citations
  4. 4Screening for thalassemia carriers among the Han population of childbearing age in Southwestern of China2024 · 8 citations
  5. 5The molecular spectrum of alpha- and beta-thalassemia pathogenic variants in Indonesia: implications for national screening and prevention2026