A rare −α27.6 deletion compounded with the hemoglobin constant spring mutation identified in a Chinese couple

A rare −α27.6 deletion compounded with the hemoglobin constant spring mutation identified in a Chinese couple

Background Thalassemia is a common hemoglobin disorder caused by genetic defects in a single autosomal gene. Based on the deficient globin strand, it can be classified as α-thalassemia or β-thalassemia. The 27.6 kb deletion on α-globin related gene cluster (−α27.6) is a rare α-thalassemia variant di...

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Bibliographic Details
Main Authors: Wei Li, Zhao-Yi Guo, Zi-Han Xiu, Min Long, Yan Xiao, Li-Yi Liu, Yu-Chen Chen, Si-Fan Zeng, Jing Zhang, Min Zhang
Format: Article
Language:English
Published: Taylor & Francis Group 2025-12-01
Series:Hematology
Subjects:
Thalassemia
prenatal testing
routine blood testing
deletion of −α27.6
haemoglobin capillary electrophoresis
Hb CS variants
Online Access:https://www.tandfonline.com/doi/10.1080/16078454.2025.2485694
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https://www.tandfonline.com/doi/10.1080/16078454.2025.2485694

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