Tang Hai-Shen, Zhou Jian-Ying, Xie Xing-Mei, Li Ru, Liao Can, Li Dong-Zhi
Prenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Women & Children Medical Center, Guangzhou Medical College, Guangzhou, Guangdong, People's Republic of China.
Hemoglobin. 2012;36(2):196-9. doi: 10.3109/03630269.2011.649151. Epub 2012 Jan 12.
The interaction of the nondeletional α-thalassemia (α-thal) mutations with the Southeast Asian double α-globin gene deletion results in nondeletional Hb H (β4) disease. Hb Constant Spring (Hb CS, α142, TAA>CAA at α2) and Hb Quong Sze [Hb QS, α125, CTG>CCG (α2)] are the most common nondeletional α-thalassemias in the Chinese population. These α-globin structural variants are unstable and undetectable by routine hemoglobin (Hb) electrophoresis. The amount of Hb Bart's (γ4) in the cord blood of newborns correlates with the number of α-globin genes that are deleted. We determined the quantity of Hb Bart's in cord blood at birth with the Sebia CapillaryS electrophoresis system. Using Hb Bart's levels at 0.1-2.5% as a cut-off range for nondeletional α-thal diagnosis, we detected 154 individuals in 6,525 newborns. Of the 154 samples, 12 were found to be Hb CS carriers, 10 Hb QS carriers, and one Hb Westmead [α122, CAC>CAG (α2)] carrier. We present the first report of the prevalence of Hb QS in our population.
非缺失型α地中海贫血（α-地贫）突变与东南亚型双α珠蛋白基因缺失相互作用会导致非缺失型Hb H（β4）病。Hb Constant Spring（Hb CS，α2基因第142位密码子TAA>CAA）和Hb Quong Sze [Hb QS，α2基因第125位密码子CTG>CCG]是中国人群中最常见的非缺失型α-地贫。这些α珠蛋白结构变异体不稳定，常规血红蛋白（Hb）电泳无法检测到。新生儿脐带血中Hb Bart's（γ4）的量与缺失的α珠蛋白基因数量相关。我们使用Sebia CapillaryS电泳系统测定了出生时脐带血中Hb Bart's的量。以Hb Bart's水平在0.1%至2.5%作为非缺失型α-地贫诊断的临界范围，我们在6525名新生儿中检测到154例。在这154个样本中，发现12例为Hb CS携带者，10例为Hb QS携带者，1例为Hb Westmead [α2基因第122位密码子CAC>CAG]携带者。我们首次报告了我们人群中Hb QS的患病率。
