Faculty of Allied Health Sciences, Phayao University, Phayao, Thailand.
Am J Clin Pathol. 2011 Jul;136(1):14-8. doi: 10.1309/AJCP1BT2MGATKFHL.
The β-chain hemoglobin (Hb) variants interfere with the diagnosis of β-thalassemia trait using high-performance liquid chromatography (HPLC) and capillary electrophoresis (CE). We analyzed the effect of Hb Hope, a β-chain Hb variant frequently found in the Thai population, on β-thalassemia trait diagnosis. HPLC and CE were used to quantify the level of HbA(2) in 11 whole blood samples containing Hb Hope. The levels of Hb Hope detected by both methods were similar. An elevated HbA(2) level was found in all samples analyzed by the CE method, while 1 was increased when analyzed by HPLC, which was a compound heterozygous of Hb Hope and α-thalassemia-1 SEA-type deletion. Of 11 samples, 6 had mean corpuscular volumes within the reference range. All samples showed negative results for molecular analysis of β(0)-thalassemia codon 17, 41/42, and 71/72 mutations and β-thalassemia 3.5-kb deletion. Therefore, Hb Hope interfered with the diagnosis of β-thalassemia trait analyzed by CE but not by HPLC.
β-珠蛋白(Hb)变体通过高效液相色谱(HPLC)和毛细管电泳(CE)干扰β-地中海贫血性状的诊断。我们分析了在泰国人群中经常发现的β-珠蛋白变体 Hb Hope 对β-地中海贫血性状诊断的影响。使用 HPLC 和 CE 定量测定 11 份含有 Hb Hope 的全血样本中 HbA(2)的水平。两种方法检测到的 Hb Hope 水平相似。CE 方法分析的所有样本均发现 HbA(2)水平升高,而 HPLC 分析时则升高,这是 Hb Hope 和 α-地中海贫血-1 SEA 型缺失的复合杂合子。在 11 个样本中,有 6 个平均红细胞体积在参考范围内。所有样本的β(0)-地中海贫血密码子 17、41/42 和 71/72 突变以及β-地中海贫血 3.5kb 缺失的分子分析结果均为阴性。因此,Hb Hope 通过 CE 分析干扰了β-地中海贫血性状的诊断,但通过 HPLC 分析则未干扰。