葛艳芬 1李萍 2王景健 1黄锦维 1谢红东 1林乘龙1
作者信息
- 1. 510080 广东省广州市，广东省人民医院 广东省医学科学院 检验科
- 2. 510080 广东省广州市，广东省人民医院 广东省医学科学院 妇产科
- 折叠
摘要
Abstract
Objective To summarize hematological indicators of 34 cases of sickle cell syndrome( HbS disease), and to analyze the hematology and clinical characteristics. Methods A total of 34 patients with HbS disease who were treated in Guangdong General Hospital from March 2005 to November 2013,were selected as study subjects,all cases were compliant with inclusion and exclusion criteria. The fasting peripheral blood specimens of cases were obtained in the morning for routine blood analysis,hemoglobin electrophoresis,erythrocyte sickling test,Heinz body experiment,ferritin detection and G6PD/ 6PGD enzyme activity analysis. Results The normal HbA electrophoresis strip was not found in four cases with HbS homozygous,the HbS electrophoresis strip was common,the HbA2 electrophoresis strip was not common,cases had moderate anemia. There were 3 families with HbS homozygous,all parents were HbS heterozygote. Among adults with HbS heterozygote,the hemoglobin concentration of only 5 cases was 92 - 97 g/ L,and these 5 cases had mild anemia,the hemoglobin concentration of the rest adults with HbS heterozygote was above 110 g/ L. The newborns with HbS heterozygote had low HbS content( < 7. 00% ). One case of fetal umbilical cord blood and one case of newborn blood presented HbS and Hb Barts electrophoresis strip simutaneously, which indicated they were HbS - α thalassemia patients. One pregnant woman was HbS heterozygote,fetal umbilical cord blood analysis suggested HbS - α thalassemia on 32 weeks of pregnancy. The results of routine blood analysis and hemoglobin electrophoresis of 1 case of male infant indicated he was a HbS - β thalassemia patient. The erythrocyte sickling test result of baby, child and adult showed positive. Heinz body experiment presented positive in 4 adults with HbS - α thalassemia. One case of HbS heterozygote patient had low ferritin content(2. 4 ng/ ml). The G6PD/ 6PGD ratio was 0. 11 - 0. 29 in 4 male HbS heterozygous patients,and the G6PD/ 6PGD ratio was 0. 51 - 0. 70 in 3 female patients with HbS heterozygous. Conclusion For homozygous HbS patients,normal HbA is substituted by HbS,therefore,it is easy to lead to vascular embolism and chronic hemolytic anemia,the clinical phenotype of abnormal HbS homozygote is moderate anemia;in most cases,heterozygous HbS don't affect clinical phenotype of individuals,so there is no symptoms,or few cases have mild clinical manifestations;both HbS - αthalassemia and HbS - β thalassemia can cause mild anemia;heterozygous HbS complicated with iron - deficiency anemia,and heterozygous HbS complicated with G6PD deficiency may aggravate the symptoms of anemia,which leads to moderate anemia.关键词
镰状细胞综合征/血液学/病理学,临床/纯合子/杂合子Key words
Sickle cell syndromes/Hematology/Pathology,clinical/Homozygote/Heterozygote分类
医药卫生
