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First clinical and molecular characterization of two rare complex β-globin variants in Chinese population using third

Lixian Zhang1, Jianlong Zhuang2, Nan Huang3

  • 1Neonatal Disease Screening Department, Putian Maternal and Child Health Care Hospital, The Affiliated Hospital (Group) of Putian University, 351100, Putian, China.

Annals of Hematology
|April 9, 2026
PubMed
Abstract

No abstract available in PubMed .

Keywords:
Hb variantsMolecular diagnosisSanger sequencingThalassemiaThird-generation sequencing

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