313例浙江省宁波地区携带地中海贫血基因患者基因类型特点分析  

Genetic characteristics of 313 patients with thalassemia gene in Ningbo area of Zhejiang Province

作　　者：葛群芳[1] 张怡[2] 牧启田[2] 王怡[1] 郭飞[3] 欧阳桂芳[1] Ge Qunfang;Zhang Yi;Mu Qitian;Wang Yi;Guo Fei;Ouyang Guifang(Department of Hematology, Ningbo First Hospital, Ningbo 315000, China;Department of Hematology Laboratory, Ningbo First Hospital, Ningbo 315000, China;Department of Clinical Laboratory, Ningbo First Hospital, Ningbo 315000, China)

机构地区：[1]宁波市第一医院血液科,浙江宁波315000 [2]宁波市第一医院血液实验室,浙江宁波315000 [3]宁波市第一医院检验科,浙江宁波315000

出　　处：《中华地方病学杂志》2019年第10期844-848,共5页Chinese Journal of Endemiology

摘　　要：目的了解宁波地区携带地中海贫血基因患者的基因型分布特点。方法收集2015年3月至2016年4月宁波市第一医院诊断为携带地中海贫血基因患者的病例资料,回顾性分析患者的血常规检测、血红蛋白(Hb)电泳、基因检测结果,以及不同基因类型患者的性别、籍贯分布。结果313例携带地中海贫血基因患者中,女性289例,男性24例,年龄中位数为29岁,范围为出生后1 d^57岁。患者中携带α型地中海贫血基因75例,β型地中海贫血基因230例,α、β复合型地中海贫血基因8例,Hb平均值均在100 g/L左右,平均红细胞体积均< 80 fl。α型地中海贫血易出现异常Hb。β型地中海贫血Hb电泳阳性率高达81.74%(188/230)。女性患者人数占有绝对优势,大多数患者因妊娠产检发现贫血而就诊。祖籍为宁波市或者父母一方祖籍为宁波市患者接近50%,宁波籍α型地中海贫血20例,基因类型以--sea多见,占70.00%(14/20);宁波籍β型地中海贫血82例,基因类型以IVS-Ⅱ-654多见,占54.88%(45/82);宁波籍α、β复合型地中海贫血2例,基因类型分别为αCS/IVS-Ⅱ-654、-α3.7/CD41-42。结论宁波地区地中海贫血女性发病高于男性,携带β型地中海贫血基因检出率高于α型,β型地中海贫血基因类型中以IVS-Ⅱ-654多见。Objective To investigate the genetic characteristics of patients with thalassemia gene in Ningbo City. Methods Totally 313 patients with thalassemia gene diagnosed during March 2015 to April 2016 in Ningbo First Hospital were included in the study. The results of routine blood test, hemoglobin electrophoresis and gene test, as well as the gender and origin distribution of patients with thalassemia gene were analyzed. Results Of the 313 patients who carried the thalassemia gene, there were 289 females and 24 males with a median age of 29 years, ranging from 1 d to 57 years after birth. And of the 313 patients, 75 carried the α-thalassemia gene, 230 β-thalassemia and 8 composite thalassemia. The average value of hemoglobin was around 100 g/L and the average value of erythrocyte mean corpuscular volume (MCV) was less than 80 fl. Abnormal hemoglobin was usually found in α-thalassemia. 81.74%(188/230) of β-thalassemia had abnormal hemoglobin electrophoresis. Most of the patients were women who were diagnosed of anemia in routine prenatal examination. The number of patients, who came from Ningbo City or one of whose grandparents came from Ningbo City, was closed to 50%. Among 20 α-thalassemia patients coming from Ningbo City, genotype of--sea was the commonest genotype, accounted for 70.00%(14/20). Among 82 β-thalassemia patients coming from Ningbo, genotype of IVS-Ⅱ-654 was commonest genotype, accounted for 54.88%(45/82). Genotypes of 2 composite thalassemia coming from Ningbo City were αCS compound IVS-Ⅱ-654 and -α3.7 compound CD41-42. Conclusions In Ningbo City, the incidence of thalassemia in women in Ningbo is higher than that in men. The morbidity of β-thalassemia genotype is apparently higher than that of α-thalassemia, and genotype of IVS-Ⅱ-654 in β-thalassemia patients is the commonest genotype.

关 键 词：地中海贫血 血红蛋白 基因分析 

分 类 号：R4[医药卫生—临床医学] R5