Liao Can, Xie Xing-Mei, Zhong Hui-Zhu, Zhou Jian-Ying, Li Dong-Zhi
Prenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Women & Children's Medical Center, Guangzhou Medical College, Guangdong 510180, People's Republic of China.
Hemoglobin. 2009;33(6):528-33. doi: 10.3109/03630260903333567.
This study was carried out to evaluate whether it is effective to use mean corpuscular volume (MCV) <80 fL as a screening test in the first step of screening for beta-thalassemia (beta-thal) trait in southern China. The data of hematological testing in the first or early second trimester of gestation of 449 pregnant women who underwent prenatal diagnosis for beta-thal were retrospectively reviewed. Of these, six (1.3%) had an MCV value >80 fL, ranging from 80.3 to 83.4 fL. This meant that six at-risk pregnancies would have been missed if only an MCV cut-off value of <80 fL had been used for screening. All subjects having a normal MCV value carried the same -28 (A>G) mutation, accounting for 9.8% (6/61) of the total number of mother with this mutation. If screening had been based on the mean corpuscular hemoglobin (MCH) <27 pg, all 449 pregnant women with beta-thal trait would have been detected. We suggest that all pregnant women presenting at an antenatal clinic with an MCH of <27 pg rather than an MCV of <80 fL should be investigated further to confirm or exclude a diagnosis of beta-thal trait in our region.
本研究旨在评估在中国南方地区，将平均红细胞体积（MCV）<80 fL作为β地中海贫血（β-地贫）特征筛查第一步的筛查试验是否有效。回顾性分析了449例接受β-地贫产前诊断的孕妇在妊娠早期或孕中期的血液学检测数据。其中，6例（1.3%）的MCV值>80 fL，范围为80.3至83.4 fL。这意味着如果仅使用<80 fL的MCV临界值进行筛查，将会遗漏6例高危妊娠。所有MCV值正常的受试者均携带相同的-28（A>G）突变，占携带该突变母亲总数的9.8%（6/61）。如果基于平均红细胞血红蛋白（MCH）<27 pg进行筛查，所有449例β-地贫特征孕妇均能被检测出来。我们建议，在我们地区，所有产前检查时MCH<27 pg而非MCV<80 fL的孕妇都应进一步检查，以确诊或排除β-地贫特征的诊断。
