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

• Published in: Hematology (Luxembourg) Vol. 27; no. 1; pp. 867 - 873
• Main Authors: Yao, Cuize, Qin, Danqing, Wang, Jicheng, Bao, Xiuqin, Liang, Jie, Du, Li
• Format: Journal Article
• Language: English
• Published: Taylor & Francis 31.12.2022; Taylor & Francis Group
• Subjects: capillary electrophoresis (CE); DNA sequencing; Hb Dongguan heterozygous; Hb Val de marne; Hemoglobin variant

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 the third e...