First study to describe a novel HbA2: c.400A > C mutation and Hb Dongguan heterozygote in two unrelated Chinese families

First study to describe a novel HbA2: c.400A > C mutation and Hb Dongguan heterozygote in two unrelated Chinese families

Objectives Here we report two rare α-globin chain variants in two unrelated families: Hb Val de Marne [α133(H16) Ser > Arg (AGC > CGC); HBA2: c.400A > C] and Hb Dongguan [α52(E6) Ser > Cys (TCT > TGT); HBA1: c.158C > G]. Notably, HBA2: c.400A > C is an unreported new variant in...

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Bibliographic Details
Main Authors: Cuize Yao, Danqing Qin, Jicheng Wang, Xiuqin Bao, Jie Liang, Li Du
Format: Article
Language:English
Published: Taylor & Francis Group 2022-12-01
Series:Hematology
Subjects:
Hemoglobin variant
Hb Val de marne
Hb Dongguan heterozygous
DNA sequencing
capillary electrophoresis (CE)
Online Access:https://www.tandfonline.com/doi/10.1080/16078454.2022.2109324

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