摘要
目的分析深圳地区珠蛋白生成障碍性贫血(简称地贫)患儿基因型分布特征及血液学表型和基因型的关系。方法以2017年1-8月深圳市龙岗区妇幼保健院门诊、住院及体检的314例疑似地贫患儿作为研究对象,回顾性分析其基因突变类型和血液学表型。结果314例可疑患儿共检出地贫233例(74.20%),其中α-地贫138例(59.23%),以--SEA/αα(73.91%)最常见;β-地贫87例(37.34%),以β41-42/βN(37.93%)和β654/βN(32.18%)最常见;复合型αβ-地贫8例(3.43%)。地贫患儿的平均红细胞体积(MCV)与平均红细胞血红蛋白含量(MCH)明显低于非地贫患儿,差异有统计学意义(P<0.05)。静止型α-地贫、标准型α-地贫与中间型α-地贫MCV、MCH组间两两比较,差异均有统计学意义(P<0.05);β+/βN型地贫MCV、MCH低于β0/βN型地贫,差异有统计学意义(P<0.05);复合型αβ-地贫与其余各组MCV、MCH比较,差异均无统计学意义(P>0.05);血液学表型和基因型不符的18例地贫患儿中,MCV>80.00fL且MCH≤27.00pg5例,MCH>27.00pg且MCV<80.00fL2例,MCV>80.00fL且MCH>27.00pg11例,以--SEA/αα、β41-42/βN、β654/βN、β17/βN型地贫为主。结论深圳地区儿童地贫发生率较高,贫血程度个体化差异较大,应结合血液学参数加大筛查力度,减少地贫患儿出生。
Objective To analyze the genotype distribution and the relationship between hematological phenotype and genotype in children with globin-producing disorder anemia in Shenzhen. Methods A total of 314 children suspected of thalassemia in outpatient,inpatient and physical examination of Longgang District Maternal and Child Health Hospital of Shenzhen from January to August 2017 were studied.The types of gene mutations and hematological phenotypes were analyzed retrospectively. Results A total of 233 (74.20%) cases of thalassemia were detected in 314 suspicious patients.Among them,138 cases was with α-thalassemia (59.23%),of which -- SEA /αα(73.91%) was the most common,and 87 cases withβ-thalassemia (37.34%),of which the most common species were β 41-42 /β N (37.93%) and β 654 /β N (32.18%).The results showed that there were 8 cases of compound αβ-thalassemia (3.43%).Mean red cell volume (MCV) and mean corpuscular hemoglobin (MCH) were significantly lower than that of children without thalassemia,and the difference was statistically significant ( P <0.05).There were significant differences in MCV and MCH between the static type of α-thalassemia,the standard type of α-thalassemia and the intermediate type of α-thalassemia groups( P < 0.05 ).MCV and MCH of β+/β N thalassemia were lower than those of β 0/β N,and the differences were statistically significant ( P <0.05).In addition,there were no statistically significant differences in MCV and MCH between compound αβ-thalassemia and other groups ( P >0.05).In 18 thalassemia children with inconsistent hematological phenotype and genotype,there were 5 cases with MCV>80.00 fL and MCH≤27.00 pg,2 cases with MCH> 27.00 pg and MCV<80.00 fL,11 cases with MCV>80.00 fL and MCH> 27.00 pg,and mostly were -- SEA /αα,β 41-42 /β N,β 654 /β N,β 17 /β N thalassemia. Conclusion The prevalence of thalassemia in children in Shenzhen area is high,and the degree of anemia varies greatly among individuals.In order to reduce the birth rate of children with thalassem
作者
曹宪振
李高驰
裴元元
郑银壁
杜丽
魏凤香
CAO Xianzhen;LI Gaochi;PEI Yuanyuan;ZHENG Yinbi;DU Li;WEI Fengxiang(Central Laboratory;Department of Clinical Laboratory,Maternal and Child HealthHospital of Longgang District,Shenzhen,Guangdong 518172,China;Medical Heredity Center,Guangdong Maternal and Child Health Hospital,Guangzhou,Guangdong 510010,China)
出处
《检验医学与临床》
CAS
2019年第13期1837-1839,1843,共4页
Laboratory Medicine and Clinic
