A New δ-Globin Gene Variant: Hb A2-Fengshun [δ121(GH4)Glu→Lys (HBD: c.364G > A)].
An elevated Hb A2 (α2δ2 level) is a diagnostic marker for heterozygous β-thalassemia (β-thal). Mutations in the δ-globin gene can cause decreased expression of Hb A2, compromising screening for heterozygous β-thal. In this report, we describe a novel missense mutation of the δ-globin [Hb A2-Fengshun or δ121(GH4)Glu→Lys, HBD: c.364G > A] in a Chinese individual who had coinherited a heterozygous β-thal with a normal Hb A2 level.
a Prenatal Diagnostic Center, Guangzhou Women and Children Medical Center affiliated to Guangzhou Medical University , Guangzhou , Guangdong , People's Republic of China.
Jin-Mei
JM
Yan
a Prenatal Diagnostic Center, Guangzhou Women and Children Medical Center affiliated to Guangzhou Medical University , Guangzhou , Guangdong , People's Republic of China.
Jian-Ying
JY
Zhou
a Prenatal Diagnostic Center, Guangzhou Women and Children Medical Center affiliated to Guangzhou Medical University , Guangzhou , Guangdong , People's Republic of China.
Xing-Mei
XM
Xie
a Prenatal Diagnostic Center, Guangzhou Women and Children Medical Center affiliated to Guangzhou Medical University , Guangzhou , Guangdong , People's Republic of China.
Jian
J
Li
a Prenatal Diagnostic Center, Guangzhou Women and Children Medical Center affiliated to Guangzhou Medical University , Guangzhou , Guangdong , People's Republic of China.
Dong-Zhi
DZ
Li
D044466:Asian People / Q000235:genetics; D006443:Hemoglobin A2 / Q000032:analysis / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D020125:Mutation, Missense; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics; D055546:delta-Globins / Q000235:genetics*
D055546:delta-Globins; D006443:Hemoglobin A2
Hb A2-Fengshun; β-Thalassemia (β -thal); δ chain hemoglobin (Hb) variant