关键词: 异常Hb Q, 血红蛋白电泳, α珠蛋白链, α地中海贫血, 家系分析

Abstract: Objective We performed the pedigree analysis of abnormal Hb Q, and report this study,so as to strengthen the attention of clinicians to Hb Q patients and other abnormal Hb gene carriers. Methods Peripheral blood samples from family member of three patients were collected for routine hematologic test,hemoglobin electrophoresis,denatured globin body（Heinzbody）test and α、β thalassemia gene detection. Results MCV,MCH of five probands and their father or mother all decreased,α genotype of four probands and their father or mother were all -α^4.2/αα.α genotype of one proband was--SEA /-α^4.2,his father or mother were --SEA/αα、-α^4.2/αα.The S zone of four probands hemoglobin electrophoresis contained（19.2-24.0）% of abnormal bands. Hb Bart's was（0.3-1.4）%, Hb A was（8.1-21.0）% and Hb F was（59.3-67.4）%. His father or mother was abnormal Hb Q1, and the content was （27.9-29.1）%. Hb A was （68.2-69.7）%, Hb A2 was（1.7-1.9）% and Hb Q2 was（0.7-0.8）%. Hb electrophoresis S zone of one proband contained 46.3% abnormal bands. Hb Bart's was 26.9%,Hb F was 25.7%,while Hb A had not been detected. Heinz body test was positive, and the detection rate was 0.5%. His father's Heinz body test was also positive.The abnormal Hb Q1 of his mother content was 28.5%. Hb A was 69.1%,Hb A2 was 1.7%,and Hb Q2 was 0.7%. Conclusion Based on the analysis of family heredity and thalassemia gene,the abnormal hemoglobin of the five probands and their parents were all Hb Q linked static type of thalassemia a^4.2 with α chain variation. The five cases of abnormal hemoglobin complex α -thalassemia have enriched the knowledge of medical workers, which is of great significance for the healthy birth and guidance of genetic counseling.

Key words: Abnormal Hb Q, Hemoglobin electrophoresis, α globin chain, α thalassemia, Pedigree analysis