Genotypic distribution and molecular spectrum of rare and novel thalassemia variants in Ganzhou, southern China
Jungao Huang, Xiaoyan Huang, Xinxing Xie, Xiaoqin Xin · 2026
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Description
Huang and three co-authors cataloged rare thalassemia variants in Ganzhou, southern China, in twenty twenty-six. Thalassemia, an inherited blood disorder, is the commonest single-gene disease worldwide and is frequent in China's south. Mapping rare variants supports genetic counseling and prenatal diagnosis.
Over eighty-four thousand people were screened between twenty twenty-two and twenty twenty-five, and one thousand eighty-one carried rare variants, about one point three percent. Rare alpha and beta variants were roughly balanced, and twenty-six variants were newly identified, six classed as likely disease-causing. One new beta variant was linked to a specific anemia pattern. Rates varied by district within the region. The authors stress that the variant spectrum is complex and uneven, so screening programs in high-incidence areas need methods that catch rare forms, not just the common deletions.
Catalog record
| CREATOR | Jungao Huang, Xiaoyan Huang, Xinxing Xie, Xiaoqin Xin |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 30 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |