45例血红蛋白Q-Thailand的表型和基因型分析

Phenotypic and genotypic analysis of 45 cases with Hemoglobin Q-Thailand

目的探讨惠州地区血红蛋白Q-Thailand（hemoglobin Q-Thailand，HbQ-Thailand）的血液学和分子特征。方法应用毛细管电泳和琼脂糖凝胶电泳技术检测34977份外周血样本，对筛查出HbQ条带的样本分别进行血细胞分析和DNA测序。采用液相芯片和导流杂交技术检测中国人常见的23种α和β地贫基因突变。结果惠州地区人群Hb Q-Thailand的检出率为0．13％，家系分析其与-α4.2缺失型的α地贫存在连锁。检出的45例Hb Q-Thailand杂合子的血液学参数（血红蛋白、红细胞平均体积、平均血红蛋白含量、HbA、HbA2、HbQ）分别为（130．25±17．37）g／L、（79．81±4．97）fl、（26．38±1.48）Pg、（71．37±5．07）％、（1．65±0．45）％、（26．87±4．95）％。选取408例-α4.2缺失杂合子与Hb Q-Thailand杂合子的数据相比较，除了HbA和HbAz差异有统计学意义外（P〈0．05），其余指标差异均无统计学意义。结论惠州地区人群Hb Q-Thailand的检出率高，以杂合子且与-α4.2缺失杂合子连锁存在。通过血红蛋白电泳可以检出HbQ条带，当Hb Q-Thailand杂合子合并其他类型地贫时，可表现出明显的血液学参数差异性。

Objective To explore hematological and molecular characteristics of Hemoglobin Q-Thailand in Huizhou area of Guangdong Province. Methods A total of 34 977 samples were screened by capillary and agarose gel electrophoresis. Samples suspected with HbQ strips were subjected to blood cell count and DNA sequencing. Twenty three common mutations associated with a- and --thalassemia were identified by liquid phase chip and diversion hybridization technique. Results The carrier rate of Hb Q-Thailand in Huizhou area was 0.13%. Pedigree analysis indicated that the Hb Q-Thailand allele is linked with a leftward single a-globin gene deletion （-α4.2）. Hematological index （HGB, MCV, MCH, HbA, HbA_2, HbQ） of 45 heterozygous carriers of Hb Q-Thailand were （130.25 ± 17.37） g/L, （79.81 ± 4.97） fl, （26.38 ± 1.48） pg, （71.37 ± 5.07）%, （1.65 ± 0.45）%, （26.87 ± 4.95）%, respectively. A statistical difference was also found in their hematological index of HbA and HbA2 compared with 408 heterozygous carriers of -α4.2 mutation （P 〈 0.05）. Conclusion Hb Q-Thailand has a high detection rate in Huizhou area. The allele is mainly in a heterozygous status and linked with -α4.2. The Hb Q strip can be detected by hemoglobin electrophoresis. When combined with other types of thalassemia, the heterozygotes will show unique hematological parameters.