Sirichotiyakul Supatra, Saetung Rattika, Sanguansermsri Torpong
Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.
Hemoglobin. 2009;33(1):17-23. doi: 10.1080/03630260802626046.
To determine the accuracy of prenatal diagnosis of beta-thalassemia (beta-thal)/Hb E disease using fetal hemoglobin (Hb) typing compared to DNA analysis, automated DNA sequencing was performed on 98 blood samples from fetuses diagnosed as beta-thal/Hb E by Hb typing. Thirteen samples from homozygous Hb E fetuses were also collected. The Hb patterns obtained by high performance liquid chromatography (HPLC) from both groups were analyzed. The codon 26 (G>A) mutation was identified in all 98 samples. The beta-globin gene mutation was identified in 97 cases by DNA sequencing and the 3.4 kb deletion by polymerase chain reaction (PCR) in one case. The result from DNA analysis was in agreement with the HPLC result in all samples. In beta-thal/Hb E fetuses, the Hb A level was 0-0.3% and mean Hb A(2)(E) level was 1.3 +/- 0.3%. In homozygous Hb E fetuses, the Hb A level was 0% and mean Hb A(2)(E) level was 2.48 +/- 0.6%. The Hb pattern obtained by HPLC on fetal blood is a reliable and accurate method for prenatal diagnosis of this disease.
为了确定与DNA分析相比，使用胎儿血红蛋白（Hb）分型进行β地中海贫血（β-地贫）/Hb E病产前诊断的准确性，对98份经Hb分型诊断为β-地贫/Hb E的胎儿血样进行了自动化DNA测序。还收集了13份纯合子Hb E胎儿的样本。分析了两组通过高效液相色谱法（HPLC）获得的Hb模式。在所有98份样本中均鉴定出密码子26（G>A）突变。通过DNA测序在97例中鉴定出β珠蛋白基因突变，1例通过聚合酶链反应（PCR）鉴定出3.4 kb缺失。DNA分析结果与所有样本的HPLC结果一致。在β-地贫/Hb E胎儿中，Hb A水平为0-0.3%，平均Hb A2（E）水平为1.3±0.3%。在纯合子Hb E胎儿中，Hb A水平为0%，平均Hb A2（E）水平为2.48±0.6%。通过HPLC获得的胎儿血Hb模式是该疾病产前诊断的一种可靠且准确的方法。
