广西地区Gγ(Aγδβ)0-珠蛋白生成障碍性贫血的研究  

Study on Chinese ~Gγ(~Aγδβ)~0-Thalassemia in Guangxi Area

作　　者：覃丽波[1] 陈萍[1] 陈文强[1] 林伟雄[1] 李树全[1] 杨德寨[1] 谢湘芝[1] 肖璇[1] 丘玉铃[1] 

机构地区：[1]广西医科大学第一附属医院血红蛋白研究室,广西地中海贫血防治重点实验室,南宁530021

出　　处：《实用儿科临床杂志》2012年第15期1151-1153,共3页Journal of Applied Clinical Pediatrics

基　　金：卫生部卫生公益性行业科研专项经费项目(201202017);广西科学研究与技术开发计划项目(桂科合0992032-11);广西科技基础条件平台建设项目(11-031-07,12-071-05)

摘　　要：目的探讨广西地区Gγ(Aγδβ)0-珠蛋白生成障碍性贫血(地贫)的基因突变和临床表型特点。方法对2010年12月-2012年3月在广西医科大学第一附属医院就诊的患者进行血常规检测;应用高效液相色谱法进行Hb分析;应用PCR和反向斑点杂交方法分析地贫基因突变类型。结果在胎儿血红蛋白(Hb F)增高的病例中检出6例中国型Gγ(Aγδβ)0地中海贫血杂合子,基因分析结果显示3例为中国型Gγ(Aγδβ)0-地贫杂合子,3例为Gγ(Aγδβ)0-地贫复合β-地贫CD41/42,CD71/72和-28基因突变的双重杂合子。血常规检测结果显示Gγ(Aγδβ)0-地贫杂合子Hb为94.8～128.0 g.L-1,平均红细胞容积(MCV)为72.0～79.1 fL,平均红细胞血红蛋白量(MCH)为23.00～25.87 pg。Gγ(Aγδβ)0-地贫复合β-地贫双重杂合子的Hb为84.7～88.0 g.L-1,MCV为61.9～66.9 fL,MCH为21.10～23.70 pg。血红蛋白分析结果显示Gγ(Aγδβ)0地贫杂合子HbA2为2.1%～2.6%,HbF为10.0%～18.0%。Gγ(Aγδβ)0-地贫复合β-地贫双重杂合子的HbA2为1.27%～3.70%,HbF为41.6%～98.8%。中国型Gγ(Aγδβ)0-地贫杂合子无贫血或轻度贫血,而复合β-地贫的双重杂合子临床表现为中度贫血,伴肝脾大。未检出其他类型的缺失型(δβ)0地贫。结论首次在广西地区检出中国型Gγ(Aγδβ)0地贫,其杂合子无临床症状或有轻度贫血,MCV、MCH降低,HbF升高。当复合β-地贫时有中度贫血,需依赖输血治疗。Objective To investigate the genotype and clinical features of Gγ（Aγδβ）0- thalassemia in Guangxi area. Methods Cases admitted to the First Affiliated Hospital of Guangxi Medical University from Dec. 2010 to Mar. 2012 were subjected to this study. Full blood cell counts and hemoglobin（Hb） analysis by high performance liquid chromatography （HPLC） were performed to the cases. Genotypes were analyzed by reverse dot blot hybridization （RDB） and gap - PCR methods. Results Among the cases with elevated levels of Hb F,6 cases were identified as Chinese Gγ（Aγδβ）0- 0 - thalassemia. Genotyping analysis showed that 3 cases were heterozygotes with Chinese Gγ（Aγδβ）0- thalassemia, while 3 cases were double heterozygotes for G Gγ（Aγδβ）0- thalassemia and β -thalassemia condon 41 -42 ,71/72 and -28 mutation respectively. The hematological examination showed that heterozygote for Chinese Gγ（Aγδβ）0- thalassemia had Hb level from 94.8 to 128.0 g · L^-1 , while mean corpuscular volume （MCV） ranged from 72.0 to 79.1 fL and mean corpuscular hemoglobin （MCH） 23.00 to 25.87 pg respectively. In the case with double heterozygotes for Chinese Gγ（Aγδβ）0-thalassemia and β -thalassemia, Hb was 84.7 g · L^-1 to 88.0 g · L^-1 , MCV was 61.9 to 66.9 fL and MCH was 21.10 to 23.70 pg. Hemoglobin analysis showed that heterozygotes of Chinese Gγ（Aγδβ）0- thalassemia had HbA2 2.1% to 2.6% and HbF 10.0% to 18.0% , while double heterozygotes with β - thalassemia had HbA2 for 1.27% to 3.70 % and HbF for41.6% to 98.8%. Heterozygotes of Gγ（Aγδβ）0- thalassemia had no clinical symptoms or mild anemia, but showed moderate anemia and hepatosplenomegaly when co -inherited with β -thalassemia. There was no evidence for other types of （δβ）0 -thalassemia. Conclusions This is the first report about Chinese Gγ（Aγδβ）0- thalassemia in Guangxi area. The clinical feature of heterozygotes showed no anemia or mild anemia, accompanied by hematological features of lower MC

关 键 词：(δβ)0-珠蛋白生成障碍性贫血 缺失型 基因突变 

分 类 号：R556[医药卫生—血液循环系统疾病]