育龄青年静止型α-地中海贫血的表型分析

Phenotypic Analysis of Silent α-Thalassemia the Young Popultion

目的了解育龄青年静止型α-地中海贫血的表型特征,探讨表型特征的诊断价值。方法利用血细胞仪和高效液相色谱仪,对117例经基因诊断为静止型α-地中海贫血的佛山地区育龄青年进行MCV、MCH和HbA2等指标的检测,并对其均值及处于正常范围的例数进行统计学分析。结果在117例静止型α-地中海贫血中,MCV、MCH和HbA2分别为(83.55±5.60)fl、(26.10±1.03)pg和(2.84±0.29)%;其中MCV、MCH和HbA2处于正常范围的例数分别占52.99%(62/117)、59.83%(70/117)和92.30%(108/117)。右缺失组的MCV及MCH均值分别比左缺失组的高,两者之间差异均有统计学意义(84.17vs82.02,t=-2.180,P=0.032;27.06vs26.10,t=-3.642,P=0.000)。结论静止型α-地中海贫血表型特征不明显,应用表型特征进行静止型α-地中海贫血初筛存在较高的漏检风险。右缺失的表型特征比左缺失更轻微,其筛查漏检的风险更高。

Objective To investigate the phenotypic characteristics of silent α-thalassemia in the young people in Foshan, and to develop the precaution measures for the primary screening of α-thalassemia. Methods 117 young people in Foshan who had been diagnosed with silent α-thalassemia were examined in this study. Hematological analyzer and HPLC were used for the detection of MCV,MCH and HbA2. Results The values of MCV,MCH and HbA2 were （83.55±5.6） fl, （26.10±1.03） pg and （2.84±0.29） %, respectively. The percentage of patients with normal MCV,MCH and HbA2 was 52.99%, 59.83% and 92.30%, respectively. The values of MCV and MCH in the rightward deletion cases were significantly higher than the leftward deletion cases （84.17 vs 82.02, t=-2.180, P= 0.032; 27.06 vs 26.10, t=-3.642, P=0.000）. Conclusion Phenotypic characteristics of silent α-thalassemia are not apparent, and the patients with silent α-thalassemia may not be diagnosed. The phenotypic characteristics of rightward deletion were milder than the leftward deletion, and the risk of mis-diagnosis was also high.