Hb Dapu (HBA2: c.52G > T): A Novel Nondeletional α-Thalassemia Mutation.
We report a novel mutation on the α2-globin gene, Hb Dapu [α17(A15)Val →Phe (α2); HBA2: c.52G > T] detected in a Chinese family. This mutation gives rise to a previously undescribed hemoglobin (Hb) variant that was undetectable by electrophoretic or chromatographic methods. The combination of this mutation with an in cis deletion of a double α-globin gene resulting in a mild form of Hb H (β4) disease, is consistent with a thalassemic phenotype associated with the novel mutation.
a Department of Obstetrics and Gynecology , Guangzhou Women & Children Medical Center Affiliated to Guangzhou Medical University , Guangzhou , People's Republic of China and.
Yu
Y
Yang
b Prenatal Diagnostic Center, Guangzhou Women & Children Medical Center Affiliated to Guangzhou Medical University , Guangzhou , People's Republic of China.
Dong-Zhi
DZ
Li
a Department of Obstetrics and Gynecology , Guangzhou Women & Children Medical Center Affiliated to Guangzhou Medical University , Guangzhou , People's Republic of China and.
Ping
P
He
D044466:Asian People; D006443:Hemoglobin A2 / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D010641:Phenotype; D017354:Point Mutation; D017384:Sequence Deletion; D055542:alpha-Globins / Q000235:genetics; D017085:alpha-Thalassemia / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; D006443:Hemoglobin A2
Hb Dapu; nondeletional mutation; α-thalassemia (α-thal); α2-globin gene