2012-2015年北京协和医院中间型、重型及复合型珠蛋白生成障碍性贫血病例基因分析  

Molecular diagnosis of thalassemia compound heterozygotes in PUMCH from 2012 to 2015

作　　者：杨卓[1] 韩冰[2] 甘勇[1] 裴雨晴 陈雨[1] 叶阿里[1] 陈倩[1] 吴卫[1] 蒋显勇[2] 苏薇[1] 韩建华[1] 崔巍[1] 

机构地区：[1]中国医学科学院北京协和医院检验科,100730 [2]中国医学科学院北京协和医院血液内科,100730

出　　处：《中华检验医学杂志》2016年第7期491-495,共5页Chinese Journal of Laboratory Medicine

摘　　要：目的：分析2012—2015年北京协和医院中间型、重型及复合型珠蛋白生成障碍性贫血（简称地贫）病例的基因型分布特点。方法回顾性分析近4年间1084例地贫基因分析病例。基因分析采用跨越断裂点 PCR 检测α珠蛋白常见3种缺失突变、PCR－反向点杂交检测α珠蛋白常见3种点突变及β珠蛋白常见17种突变，同时，采用毛细管电泳法进行血红蛋白电泳、血细胞分析仪及血涂片染色进行血常规和红细胞形态分析。结果702例被确诊为珠蛋白生成障碍性贫血，检出率达64．76％（702／1084），共检出19种基因型。23例中间型α－地贫表现为4种基因型，即－α3．7／－－SEA、－α4．2／－－SEA、αCSα／－－SEA和αQSα／－－SEA ，以－α3．7／－－SEA为主（检出18例）。 3例中间型β－地贫，为βCD17（A→T）／β－29（A→G）、β－28（A→G）／β－28（A→G）和βIVS－Ⅱ－654（C→T）／βCD17（A→T）。1例重型β－地贫为βCD41－42（－TTCT）／βCD17（A→T）。2例 HbE 复合β－地贫， 为βCD41－42（－TTCT）／βE 和βCD17（A→T）／βE。5例αβ复 合 型 地贫， 包 括 2例βCD41－42（－TTCT）／βA 复合αα／－α3．7、1例βIVS－Ⅱ－654（C→T）／βA 复合－－SEA ／αCS α、1例βCD17（A→T）／βA 复合－αα／－α4．2／和1例βCD41－42（－TTCT）／βA 复合αCSα／αα。其中－－SEA ／αCSα复合βIVS－Ⅱ－654（C→T）／βA 者出现 HbA2未升高及 HbH 缺失的不典型特征。结论北京协和医院就诊的中间型、重型及复合型地贫的基因型复杂多样。Objective To investigate the genotype distribution of thalassemia intermedia , major and compound thalassemia in Peking Union Medical College Hospital from 2012 to 2015. Methods Retrospectively 1 084 suspected thalassemia cases were analyzed in recent four years .Three common deletions of αglobin chain were detected by GAP-PCR.Three common point mutations of αglobin chain and seventeen common mutations of βglobin chain were identified by PCR reverse dot blot hybridization . Hemoglobin electrophoresis was carried out by Capillary Electrophoresis System .RBC associated parameters and morphology were analyzed by hematology analyzer and blood smear .Results 702 cases were confirmed to be thalassemia, and the positive rate was 64.76% （702 /1084）.19 types of gene defects were detected. There were 4 types of gene defects in 23 case with α-thalassemia intermeida, including -α3.7 /--SEA , -α4.2 /--SEA , αCSα/--SEA and αQSα/--SEA , -α3.7 /--SEA to be the most common genotype （18 cases） .3 cases with β-thalassemia intermeida were confirmed and the genotypes were βCD 17（A→T） /β-29（A→G） , β-28（A→G） /β-28（A→G） andβIVS-Ⅱ-654（C→T） /βCD17（A→T） , respectively.There were also 1 βCD 41 -42（-TTCT） /βCD17（A→T） thalassemia major case. The genotypes of 2 HbE/β-thalassemia cases were βCD41 -42（-TTCT） /βE and βCD17（A→T） /βE.5 αβ-thalassemia including 2 βCD 41 -42（-TTCT） /βA compounded with αα/-α3.7 , 1βIVS-Ⅱ-654（C→T） /βA compounded with --SEA /αCSα, 1βCD17（A→T） /βA compounded with -α4.2 /ααand 1βCD 41 -42（-TTCT） /βA compounded with αCS α/αα.Rare and untypical haematological results were found , such as normal level HbA 2 and undetectable HbH, in compound＆amp;nbsp;heterozygosity with --SEA /αCS α and βIVS-Ⅱ-654（C→T） /βA. Conclusions The genotypes of thalassemia intermedia, major and compound thalassemia in Peking Union Medical College were highly variable .

关 键 词：地中海贫血 α珠蛋白类 β珠蛋白类 基因型 血红蛋白测定 

分 类 号：R556.6[医药卫生—血液循环系统疾病] R440[医药卫生—内科学]