福建地区血红蛋白H病基因突变的研究

Research on hemoglobin H gene mutation in Fujian Area

目的:分析福建地区119例血红蛋白H病(Hb H病)基因型和血液学资料,探讨两者关系。方法:采用血细胞自动分析仪进行红细胞参数分析,应用聚合酶链反应(PCR)和反向斑点杂交(RBD)技术进行α-地中海贫血(α-地贫)基因分析。结果:来自福建各地的14 817例患者中检出Hb H病119例,发生率达0.803%,所有Hb H病患者的相关红细胞参数均呈现不同程度的降低,基因型构成比顺位分别是--SEA/-α3.7、--SEA/-α4.2、--SEA/-αCSα、--SEA/-αQSα、--SEA/-αWSα。非缺失型中Hb H-WS贫血程度与另两种基因型差异较大,含有Hb H-WS的非缺失型Hb含量与缺失型无明显差异,而去除Hb H-WS的非缺失型Hb含量明显低于缺失型。--SEA/-α4.2与--SEA/-α3.7、--SEA/-αCSα与--SEA/-αQSα各项红细胞参数比较,均无明显统计学差异。结论:该研究丰富了福建地区Hb H病患者的分子遗传学和血液学的科学资料,可为Hb H病患者的遗传指导提供重要的依据。

Objective： To analyze the gene type of Hemoglobin H （HbH） disease and hemotologic data and explore the relation- ship between HbH disease and hematologic data. Methods： Red blood cell parameters were analyzed by automatic blood cell analyzer, α- thalassemia gene was analyzed by PCR and RBD. Results： There were 119 cases （0. 803% ） of HbH disease in 14 817 patients from Fujian Province. All red blood cell parameters of HbH disease patients showed decreasing at difference extent. Sequence of composition ratio of gene type were SEA/-α^3.7、--SEA/-α^4.2、--SEA/-α^CSα、--SEA/-α^QSα、--SEA/-α^WSα respectively. There were significant differences in anemia extent between HbH-WS and the other two gene types in non-dificiency type. There was no significant difference in Hb content between non -difficiency and difficiency type containing HbH-WS. Hb content was lower in removed HbH-WS non-dificiency type than that of with HbH -WS non-dificiency type. There were no significant differences in all red blood cell parameters between --SEA/-α^4.2and--SEA/-α^3.7、--SEA/-α^CSαand--SEA/-α^QSα. Conclusion： The results enrich the scientific data in molecular genetics and hematology of HbH patients from Fujian area, provide important accordance for HbH patients genetic guidance.