Wu M-Y, Xie X-M, Li J, Li D-Z
Prenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China.
Int J Lab Hematol. 2015 Oct;37(5):649-53. doi: 10.1111/ijlh.12376. Epub 2015 May 8.
It has long been recognized that the hemoglobin (Hb) Bart's in cord blood is an accurate indicator of α-thalassemia and that the level of Hb Bart's was increased accordingly with the increasing numbers of the defective α-genes.
This study used an automatic capillary electrophoresis system to determine the Hb Bart's levels in cord blood. Molecular analyses were used to detect various genotypes of α-thalassemia.
Sixty-nine of the total 1169 newborns were found to have an increased Hb Bart's in cord blood, in whom the diagnosis of α-thalassemia was confirmed by the DNA analysis. The remaining 1100 newborns had no detectable Hb Bart's at birth; among these, 45 carriers of silent α-thalassemia were diagnosed by DNA analysis. All the 45 cases had only the -α(3.7) deletion genotype.
For newborns of one α-gene mutation, especially for 3.7-kb deletion, the method based on Hb Bart's is inadequate and is therefore not reliable for screening.
长期以来，人们一直认识到脐血中的血红蛋白Bart's（Hb Bart's）是α地中海贫血的准确指标，并且Hb Bart's的水平会随着缺陷α基因数量的增加而相应升高。
本研究使用自动毛细管电泳系统测定脐血中的Hb Bart's水平。采用分子分析方法检测α地中海贫血的各种基因型。
在1169例新生儿中，有69例脐血中的Hb Bart's升高，通过DNA分析确诊为α地中海贫血。其余1100例新生儿出生时未检测到Hb Bart's；其中，通过DNA分析诊断出45例静止型α地中海贫血携带者。所有45例均只有-α(3.7)缺失基因型。
对于单α基因突变的新生儿，尤其是3.7 kb缺失型，基于Hb Bart's的方法并不充分，因此用于筛查不可靠。
