摘要
目的分析成都市郫都区人群地中海贫血(简称地贫)基因型分布,以及不同基因型地贫患者平均红细胞体积(MCV)、平均红细胞血红蛋白含量(MCH)水平的临床意义,为临床咨询和制定地贫辅助诊断方案提供参考。方法收集2023年3月—2024年8月成都市郫都区中医医院和成都市郫都区妇幼保健院1293例地贫基因检测者地贫基因和红细胞相关检测数据。将地贫患者按年龄分为0~18岁组、19~50岁组、>50岁组,比较各组MCV、MCH水平差异。比较不同性别、不同基因型地贫患者MCV、MCH水平差异。比较MCV<78 fL和(或)MCH<27 pg、MCV<80 fL和(或)MCH<27 pg、MCV<82 fL和(或)MCH<27 pg这3种辅助诊断标准对地贫的辅助诊断效能。结果1293例患者中,确诊地贫440例(34.03%),其中α-地贫208例(47.27%,共10种基因型),β-地贫225例(51.14%,共13种基因型),α-地贫合并β-地贫7例(1.59%,共5种基因型)。地贫基因阴性组MCV、MCH水平高于地贫组,α-地贫组高于β-地贫组。α-地贫组突变类型为--SEA/-α3.7的患者MCV、MCH水平最低,突变类型为-α3.7/αα的患者MCV、MCH水平最高;β-地贫组突变类型为CD43的患者MCV、MCH水平最低,突变类型为βE的患者MCV、MCH水平最高。女性地贫患者MCV、MCH水平高于男性(P<0.001);地贫基因阳性组中,0~18岁患者MCV、MCH水平最低,19~50岁患者最高。3种辅助诊断标准漏检率均为8.55%(33/386);3种标准对α-地贫、β-地贫、α-地贫合并β-地贫的漏检率均分别为63.64%、33.33%、3.03%,且漏检人群均为同一批;α-地贫漏检基因型以-α3.7/αα、αCS/αα和-α4.2/αα为主,β-地贫漏检基因型以CD41-42、IVS-II-654、CD17为主,α-地贫合并β-地贫漏检基因型为CD41-42复合-α3.7/αα(100%)。男性地贫患者漏检率为21.21%,女性地贫患者漏检率为78.79%;19~50岁组漏检率最高(60.61%),>50岁组漏检率最低(3.03%)。结论成都市郫都区地贫基因型具有多样性,且β-地贫略多于α-地贫。性别、年龄、基因型均会影响地贫患者MCV、MCH水平。静止型α-地贫、女性、19~50岁患者易被漏诊。
Objective To analyze the genotype distribution of thalassemia in the population of Pidu District of Chengdu City,and to investigate the clinical significance of mean corpuscular volume(MCV)and mean corpuscular hemoglobin(MCH)levels in patients with different genotypes of thalassemia,in order to provide a reference for clinical consultation and the formulation of auxiliary diagnostic schemes for thalassemia.Methods A total of 1293 patients undergoing thalassemia genotyping at the Traditional Chinese Medicine Hospital of Pidu District and the Maternal and Child Health Hospital of Chengdu Pidu District from March 2023 to August 2024 were enrolled.The thalassemia genotypes and red blood cell-related determination data were collected.The patients were classified into 3 age groups:0-18 years old,19-50 years old and>50 years old.The differences in MCV and MCH levels among the 3 groups were compared.The differences in MCV and MCH levels among patients with different genders and different types of thalassemia were compared.The auxiliary diagnostic efficacy of 3 auxiliary diagnostic criteria for thalassemia(MCV<78 fL and/or MCH<27 pg,MCV<80 fL and/or MCH<27 pg,MCV<82 fL and/or MCH<27 pg)was compared.Results Among the 1293 patients,440 cases(34.03%)were diagnosed with thalassemia.Among them,208 cases(47.27%,with 10 genotypes)wereα-thalassemia,and 225 cases(51.14%,with 13 genotypes)wereβ-thalassemia.Totally,7 cases(1.59%,with 5 genotypes)wereα-+β-thalassemia.The MCV and MCH levels in non-thalassemia group were higher than those in thalassemia group,and those inα-thalassemia group was higher than those inβ-thalassemia group.Inα-thalassemia group,patients with the mutation type of--SEA/-α3.7 had the lowest MCV and MCH levels,while those with the mutation type of-α3.7/ααhad the highest MCV and MCH levels.Inβ-thalassemia group,patients with the CD43 mutation had the lowest MCV and MCH levels,and those with theβE mutation had the highest MCV and MCH levels.The MCV and MCH levels of female thalassemia patients were higher than those of male thalassemia patients(P<0.001).The MCV and MCH levels were the lowest in 0-18 years old group and the highest in 19-50 years old group.The determination rate of the 3 auxiliary diagnostic criteria was 8.55%(33/386).The determination rates ofα-thalassemia,β-thalassemia,andα-+β-thalassemia with the 3 criteria were 63.64%,33.33%and 3.03%,respectively,and the undetermined populations were the same.The undetermined genotypes ofα-thalassemia were mainly-α3.7/αα,αCS/ααand-α4.2/αα;the undetermined genotypes ofβ-thalassemia were mainly CD41-42,IVS-Ⅱ-654 and CD17;the undetermined genotypes ofα-+β-thalassemia were CD41-42 combined with-α3.7/αα(100%).The undetermined rate for male thalassemia patients was 21.21%,and that for female thalassemia patients was 78.79%.The determination rate was the highest in 19-50 years old group(60.61%)and the lowest in>50 years old group(3.03%).Conclusions The thalassemia genotypes in Pixu District of Chengdu City are diverse,andβ-thalassemia is slightly more common thanα-thalassemia.Gender,age and genotypes all affect the MCV and MCH levels of thalassemia patients,and quiescent-typeα-thalassemia,19-50-year-old patients are more likely to be missed.
作者
周朝琼
陈婷
孔丽蕊
马春宇
ZHOU Chaoqiong;CHEN Ting;KONG Lirui;MA Chunyu(The First Affiliated Hospital of Jinzhou Medical University,Jinzhou 121000,Liaoning,China;Department of Clinical Laboratory,the Maternal and Child Health Hospital of Chengdu Pidu District,Sichuan 611730,Chengdu,China;Department of Clinical Laboratory,the Traditional Chinese Medicine Hospital of Pidu District,Chengdu 611730,Sichuan,China;Jinzhou Medical University,Jinzhou 121000,Liaoning,China)
出处
《检验医学》
2026年第1期52-57,共6页
Laboratory Medicine
基金
辽宁省教育厅2021年度科学研究重点项目(LJKZ0797)
成都中医药大学“杏林学者”医院专项(XJ2023013901)
成都市卫生健康委员会成都中医药大学委校联合创新基金项目(WXLH202406011)。
