Liao Can, Li Qiuming, Wei Jiaxue, Feng Qiong, Li Jian, Huang Yining, Li Dongzhi
Prenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Medical College, Guangzhou, Guangdong, PR China.
Hemoglobin. 2007;31(4):471-5. doi: 10.1080/03630260701634463.
Alpha-thalassemia (thal) is one of the most common genetic diseases and is widely distributed in southern China. Fetuses with homozygous alpha(0)-thal, known as Hb Bart's (gamma(4)) disease, usually die during the last trimester of gestation, and the affected pregnancies are frequently associated with serious maternal morbidity and mortality. Prenatal diagnosis is needed for early detection of this disease in couples at-risk. This can be performed by invasive fetal sampling or by serial ultrasonography to detect affected fetuses followed by invasive testing. Of 122 at-risk families who received prenatal testing, 98 (80.3%) chose ultrasonography, and 24 (19.7%) chose direct invasive testing. In all, 28 affected pregnancies were detected and terminated. Ultrasonography is now playing a major role in prenatal control of Hb Bart's disease in our region, and limits the invasive procedures to the few patients identified to be at high risk.
α地中海贫血是最常见的遗传病之一，在中国南方广泛分布。患有纯合子α(0) -地中海贫血的胎儿，即所谓的血红蛋白Bart's（γ4）病，通常在妊娠晚期死亡，受影响的妊娠常伴有严重的孕产妇发病率和死亡率。高危夫妇需要进行产前诊断以便早期发现这种疾病。这可以通过侵入性胎儿取样或通过连续超声检查来检测受影响的胎儿，随后进行侵入性检测。在接受产前检测的122个高危家庭中，98个（80.3%）选择了超声检查，24个（19.7%）选择了直接侵入性检测。总共检测出28例受影响的妊娠并终止妊娠。超声检查目前在我们地区血红蛋白Bart's病的产前控制中发挥着主要作用，并将侵入性检查限制在少数被确定为高危的患者中。
