Yang Yu, Li Dong-Zhi, He Ping
a Department of Obstetrics and Gynecology , Guangzhou Women & Children Medical Center Affiliated to Guangzhou Medical University , Guangzhou , People's Republic of China and.
b Prenatal Diagnostic Center, Guangzhou Women & Children Medical Center Affiliated to Guangzhou Medical University , Guangzhou , People's Republic of China.
Hemoglobin. 2016 Aug;40(4):264-6. doi: 10.1080/03630269.2016.1187164. Epub 2016 Jun 3.
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.
我们报告了在中国一个家庭中检测到的α2-珠蛋白基因上的一种新型突变，即Hb Dapu [α17(A15)Val→Phe (α2); HBA2: c.52G>T]。该突变产生了一种以前未描述过的血红蛋白（Hb）变体，通过电泳或色谱方法无法检测到。这种突变与双α-珠蛋白基因的顺式缺失相结合，导致了轻度形式的Hb H（β4）病，这与该新型突变相关的地中海贫血表型一致。
