Lin Li, Chen Biyan, Yi Shang, Chen Qiuli, Wei Hongwei, Li Guojian, Zheng Chenguang, Qiu Xiao-Xia, He Sheng
a Prenatal Diagnosis Center , Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , PR China.
b Research Department , Guangxi Zhuang Autonomous Region Health and Family Planning Commission , Nanning , PR China.
Hemoglobin. 2017 Jan;41(1):65-67. doi: 10.1080/03630269.2017.1289102. Epub 2017 Apr 2.
We report a novel mutation on the α2-globin gene, Hb Debao [α31(B12)Arg→Trp; HBA2: c.94A>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. Hb Debao was associated with an α-thalassemia (α-thal) deletion [-α (rightward)] producing a mild phenotype with significant microcytosis and hypochromia, while the combination of this mutation with an α-thal deletion (--) resulting in a severe form of Hb H (β4) disease, which 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德保[α31(B12)精氨酸→色氨酸；HBA2:c.94A>T]。这种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。Hb德保与α地中海贫血（α-thal）缺失[-α（向右）]相关，产生轻度表型，伴有明显的小红细胞症和低色素血症，而这种突变与α-thal缺失（--）的组合导致严重形式的Hb H（β4）病，这与该新型突变相关的地中海贫血表型一致。
