临床医学工程
臨床醫學工程
림상의학공정
CLINICAL MEDICAL ENGINEERING
2015年
4期
520-522
,共3页
小儿%地中海贫血%筛查%基因分析
小兒%地中海貧血%篩查%基因分析
소인%지중해빈혈%사사%기인분석
Children%Thalassemia%Screening%Gene analysis
目的：分析河4地区小儿地中海贫血基因筛查结果，探讨河4地区小儿地贫的发病率及常见的基因的分布。方法对1274例在我院确诊为贫血的患儿进行地中海贫血基因筛查，筛查阳性的患者采用P悦砸扩增技术结合反向点杂交检测技术，分别进行α、β地中海贫血基因诊断。结果1274例贫血儿童中，地中海贫血381例(29.9豫)，其中α-地贫267例(70.1豫)，β-地贫110例(28.8豫)，复合型地贫4例(1.1豫)。267例α-地贫中缺失型基因246例，其中东南亚缺失型(-α杂耘A)158例，右侧缺失(-α3.7)49例，左侧缺失(-α4.2)37例，-栽匀A陨型2例；非缺失型21例，其中α悦杂α型10例，α匝杂α型8例，α宰杂α型3例。110例β-地贫中重型β-地贫7例(6.4豫)，中间型地贫16例(14.5豫)，轻型地贫87例(79.1豫)。结论地贫为河4地区小儿贫血的主要-因之一，地贫患儿中以α和β地贫最为常见，其中α-地贫中以东南亚缺失为主，β-地贫以轻型突变为主。
目的：分析河4地區小兒地中海貧血基因篩查結果，探討河4地區小兒地貧的髮病率及常見的基因的分佈。方法對1274例在我院確診為貧血的患兒進行地中海貧血基因篩查，篩查暘性的患者採用P悅砸擴增技術結閤反嚮點雜交檢測技術，分彆進行α、β地中海貧血基因診斷。結果1274例貧血兒童中，地中海貧血381例(29.9豫)，其中α-地貧267例(70.1豫)，β-地貧110例(28.8豫)，複閤型地貧4例(1.1豫)。267例α-地貧中缺失型基因246例，其中東南亞缺失型(-α雜耘A)158例，右側缺失(-α3.7)49例，左側缺失(-α4.2)37例，-栽勻A隕型2例；非缺失型21例，其中α悅雜α型10例，α匝雜α型8例，α宰雜α型3例。110例β-地貧中重型β-地貧7例(6.4豫)，中間型地貧16例(14.5豫)，輕型地貧87例(79.1豫)。結論地貧為河4地區小兒貧血的主要-因之一，地貧患兒中以α和β地貧最為常見，其中α-地貧中以東南亞缺失為主，β-地貧以輕型突變為主。
목적：분석하4지구소인지중해빈혈기인사사결과，탐토하4지구소인지빈적발병솔급상견적기인적분포。방법대1274례재아원학진위빈혈적환인진행지중해빈혈기인사사，사사양성적환자채용P열잡확증기술결합반향점잡교검측기술，분별진행α、β지중해빈혈기인진단。결과1274례빈혈인동중，지중해빈혈381례(29.9예)，기중α-지빈267례(70.1예)，β-지빈110례(28.8예)，복합형지빈4례(1.1예)。267례α-지빈중결실형기인246례，기중동남아결실형(-α잡운A)158례，우측결실(-α3.7)49례，좌측결실(-α4.2)37례，-재균A운형2례；비결실형21례，기중α열잡α형10례，α잡잡α형8례，α재잡α형3례。110례β-지빈중중형β-지빈7례(6.4예)，중간형지빈16례(14.5예)，경형지빈87례(79.1예)。결론지빈위하4지구소인빈혈적주요-인지일，지빈환인중이α화β지빈최위상견，기중α-지빈중이동남아결실위주，β-지빈이경형돌변위주。
Objective To analyze the genetic screening results of children with thalassemia in Heyuan, to investigate the incidence of thalassemia in children, and to study the common gene distribution of thalassemia. Methods 1 274 children with confirmed anemia were conducted with genetic screening of thalassemia. Patients with positive screening were conducted with PCR technology and reverse dot blot technique to make a genetic diagnosis ofα-thalassemia gene andβ-thalassemia gene. Results Of 1 274 anemia children, the positive rate was 29.9%, with thalassemia in 381 cases. And theα-thalassemia was 267 cases (70.1%),β-thalassemia was 110 cases (28.8%), complex thalassemia was 4 cases (1.1%). 246 cases ofα-thalassemia deletion including 158 cases of Southeast Asia deletion (-αSEA), 49 cases of right deletion (-α3.7), 37 cases of left deletion (-α4.2) and 2 cases of-THAI. 21 cases ofα-thalassemia non-deletion including 10 cases ofαCSα, 8 cases ofαQSαand 3 cases ofαWSα. 110 cases ofβ-thalassemia including 7 cases (6.4%) of severeβ-thalassemia, 16 cases (14.5%) of middleβ-thalassemia and 87 cases (79.1%) of light β-thalassemia. Conclusions Thalassemia is one of the main reasons of pediatric anemia in Heyuan, and the most common variety of children with thalassemia areα-thalassemia andβ-thalassemia. Southeast Asia deletion is the main type ofα-thalassemia and light mutation is the main type ofβ-thalassemia.
