北京医学
北京醫學
북경의학
BEIJING MEDICAL JOURNAL
2014年
7期
572-574
,共3页
地中海贫血%基因诊断%优生优育
地中海貧血%基因診斷%優生優育
지중해빈혈%기인진단%우생우육
Thalassemia%Genotype%Eugenics
目的：探讨河源地区地中海贫血的发病情况及基因分型。为开展地中海贫血的遗传咨询、产前诊断和预防计划提供参考。方法用一管定量法红细胞渗透脆性检测筛检受检人员，对筛查阳性或阴性临床疑似病例及部分贫血查因病例进行地贫基因检测。结果在7872例受检者，筛查出阳性272例，发生率为3.5%；对筛查部分阳性和阴性临床疑似病例及部分贫血查因病例标本132例进行地中海贫血基因检测，其中α地中海贫血48例（36.4%），β地中海贫血45例（34.1%），α、β混合型地中海贫血6例（4.5%），非地中海贫血33例（25%）。基因诊断为地中海贫血患者中（99例）筛查为阴性者19例，漏诊率为19.1%结论河源地区人口中的α与β地中海贫血的基因突变类型和频率较高，婚前检查、孕检或产前诊断应以地中海贫血基因诊断为主，为遗传咨询提供了理论依据，减少本地区地中海贫血的发生率。
目的：探討河源地區地中海貧血的髮病情況及基因分型。為開展地中海貧血的遺傳咨詢、產前診斷和預防計劃提供參攷。方法用一管定量法紅細胞滲透脆性檢測篩檢受檢人員，對篩查暘性或陰性臨床疑似病例及部分貧血查因病例進行地貧基因檢測。結果在7872例受檢者，篩查齣暘性272例，髮生率為3.5%；對篩查部分暘性和陰性臨床疑似病例及部分貧血查因病例標本132例進行地中海貧血基因檢測，其中α地中海貧血48例（36.4%），β地中海貧血45例（34.1%），α、β混閤型地中海貧血6例（4.5%），非地中海貧血33例（25%）。基因診斷為地中海貧血患者中（99例）篩查為陰性者19例，漏診率為19.1%結論河源地區人口中的α與β地中海貧血的基因突變類型和頻率較高，婚前檢查、孕檢或產前診斷應以地中海貧血基因診斷為主，為遺傳咨詢提供瞭理論依據，減少本地區地中海貧血的髮生率。
목적：탐토하원지구지중해빈혈적발병정황급기인분형。위개전지중해빈혈적유전자순、산전진단화예방계화제공삼고。방법용일관정량법홍세포삼투취성검측사검수검인원，대사사양성혹음성림상의사병례급부분빈혈사인병례진행지빈기인검측。결과재7872례수검자，사사출양성272례，발생솔위3.5%；대사사부분양성화음성림상의사병례급부분빈혈사인병례표본132례진행지중해빈혈기인검측，기중α지중해빈혈48례（36.4%），β지중해빈혈45례（34.1%），α、β혼합형지중해빈혈6례（4.5%），비지중해빈혈33례（25%）。기인진단위지중해빈혈환자중（99례）사사위음성자19례，루진솔위19.1%결론하원지구인구중적α여β지중해빈혈적기인돌변류형화빈솔교고，혼전검사、잉검혹산전진단응이지중해빈혈기인진단위주，위유전자순제공료이론의거，감소본지구지중해빈혈적발생솔。
Objective The incidence of thalassemia in Heyuan and studying gene typing. To provide reference for genetic counseling, prenatal diagnosis of Mediterranean anemia and prevention program. Methods Using a quantita-tive method erythrocyte osmotic fragility test screening inspection personnel, to screen the positive or negative clinical sus-pected cases and anemia were thalassemia gene detection check. Results in 7 872 examined cases, screening out the positive in 272 cases, the positive rate was 3.5%; Screening for part of the positive and negative clinical suspected cases and anemia check cases specimens from 132 patients were thalassemia gene detection, including 48 cases of alpha tha-lassemia (36.4%), 45 patients with beta thalassemia (34.1%), 6 cases of alpha, beta thalassemia mixed type (4.5%), 33 cas-es (25%) of non thalassemia. gene diagnosis for thalassemia patients (99 cases) screening was negative in 19 cases, the missed diagnosis rate was 19.1%. Conclusion Alpha and beta thalassemia population of Heyuan area in the type of gene mutation and higher frequency, premarital examination, pregnancy testing and prenatal diagnosis of thalassemia gene diagnosis should be based, provides the theoretical basis for genetic counseling, reduce the incidence of local thalassemia.
