Genetic screening strategy for children with hereditary spherocytosis in Jiangxi Province of China
Chongjun Wu, Zhongjin Xu, Qian Wan, Feng Chen, Yao Ye, Hong Wang · 2025
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Description
Chongjun Wu and co-authors set out a gene-first route for spotting a red-cell disorder in children with unexplained anemia. Hereditary spherocytosis makes red cells round and fragile, but in Jiangxi clinics its early signs blur into other anemias. The team sequenced thirty children whose anemia defied routine diagnosis.
Sequencing solved four fifths of cases: nineteen children carried the spherocytosis genes, and five carried other inherited anemia genes. At first visit, the spherocytosis cases looked much like the rest, underlining why blood tests alone miss them. The authors propose sequencing once common culprits such as nutrient deficiency and thalassemia are excluded, while noting the pathway needs refinement on larger cohorts.
Catalog record
| CREATOR | Chongjun Wu, Zhongjin Xu, Qian Wan, Feng Chen, Yao Ye, Hong Wang |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 24 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |