中华妇产科杂志
中華婦產科雜誌
중화부산과잡지
CHINESE JOUNAL OF OBSTETRICS AND GYNECOLOGY
2012年
2期
96-100
,共5页
李莉艳%李强%宋兰林%靳旺杰%麻振华%余艳红%钟梅
李莉豔%李彊%宋蘭林%靳旺傑%痳振華%餘豔紅%鐘梅
리리염%리강%송란림%근왕걸%마진화%여염홍%종매
地中海贫血%红细胞指数%血红蛋白A2%表型
地中海貧血%紅細胞指數%血紅蛋白A2%錶型
지중해빈혈%홍세포지수%혈홍단백A2%표형
Thalassemia%Erythrocyte indices%Hemoglobin A2%Phenotype
目的 探讨平均红细胞体积(MCV)、平均红细胞血红蛋白(Hb)含量(MCH)及HbA2等3项指标在地中海贫血(地贫)筛查中的价值,以及临床不同情况下地贫筛查的最佳策略.方法 选择2008年9月-2011年5月南方医科大学南方医院妇产科及内科门诊进行地贫筛查和地贫基因诊断的受检者1384例,其中1036例确诊地贫基因携带者为地贫组(包括α地贫408例、β地贫608例、αβ复合型地贫20例)；348例确诊非地贫基因携带者为非地贫组.所有受检者均进行了血液学表型指标筛查,并分别对单独应用MCV、MCH和HbA2作为地贫筛查指标、MCV+ MCH联合应用作为地贫筛查指标以及MCV+ MCH+ HbA2联合筛查在两组受检者中诊断地贫的灵敏度、特异度、阳性预测值、阴性预测值和诊断准确率进行对比分析.结果 (1)地贫组MCV筛查的灵敏度分别为:α地贫92.9％ (379/408)；β地贫99.3％( 604/608)；αβ复合型地贫100.0％( 20/20).非地贫组MCV的特异度为75.0％ (261/348).(2)地贫组MCH筛查灵敏度分别为:α地贫92.9％( 379/408)；β地贫99.0％ (602/608)；αβ复合型地贫100.0％ (20/20).非地贫组MCH特异度为72.7％ (253/348).(3)地贫组HbA2筛查的灵敏度分别为:α地贫67.4％( 275/408),β地贫97.5％ (593/608),αβ复合型地贫100.0％ (20/20)；非地贫组HbA2的特异度为72.4％( 252/348).(4)单独以MCV、MCH或MCV+MCH为表型筛查指标,而以HbA2作为地贫分型结果显示,HbA2＞ 3.5％作为β地贫的分型标准对临床有重要指导意义,而以HbA2＜2.5％作为α地贫的分型标准则有较高的假阴性率.(5)MCV、MCH和HbA2单独作为地贫筛查指标时,MCV和MCH的灵敏度、特异度、阳性预测值、阴性预测值和诊断符合率均高于HbA2.结论 MCV、MCV+MCH及MCV+MCH+HbA23种不同的地贫筛查策略中,MCV+MCH的初筛效果最优；而MCV+ MCH+ HbA2在β地贫筛查中效果最优.但针对MCV和MCH筛查阳性的孕妇,可直接行α及β地贫基因诊断.
目的 探討平均紅細胞體積(MCV)、平均紅細胞血紅蛋白(Hb)含量(MCH)及HbA2等3項指標在地中海貧血(地貧)篩查中的價值,以及臨床不同情況下地貧篩查的最佳策略.方法 選擇2008年9月-2011年5月南方醫科大學南方醫院婦產科及內科門診進行地貧篩查和地貧基因診斷的受檢者1384例,其中1036例確診地貧基因攜帶者為地貧組(包括α地貧408例、β地貧608例、αβ複閤型地貧20例)；348例確診非地貧基因攜帶者為非地貧組.所有受檢者均進行瞭血液學錶型指標篩查,併分彆對單獨應用MCV、MCH和HbA2作為地貧篩查指標、MCV+ MCH聯閤應用作為地貧篩查指標以及MCV+ MCH+ HbA2聯閤篩查在兩組受檢者中診斷地貧的靈敏度、特異度、暘性預測值、陰性預測值和診斷準確率進行對比分析.結果 (1)地貧組MCV篩查的靈敏度分彆為:α地貧92.9％ (379/408)；β地貧99.3％( 604/608)；αβ複閤型地貧100.0％( 20/20).非地貧組MCV的特異度為75.0％ (261/348).(2)地貧組MCH篩查靈敏度分彆為:α地貧92.9％( 379/408)；β地貧99.0％ (602/608)；αβ複閤型地貧100.0％ (20/20).非地貧組MCH特異度為72.7％ (253/348).(3)地貧組HbA2篩查的靈敏度分彆為:α地貧67.4％( 275/408),β地貧97.5％ (593/608),αβ複閤型地貧100.0％ (20/20)；非地貧組HbA2的特異度為72.4％( 252/348).(4)單獨以MCV、MCH或MCV+MCH為錶型篩查指標,而以HbA2作為地貧分型結果顯示,HbA2＞ 3.5％作為β地貧的分型標準對臨床有重要指導意義,而以HbA2＜2.5％作為α地貧的分型標準則有較高的假陰性率.(5)MCV、MCH和HbA2單獨作為地貧篩查指標時,MCV和MCH的靈敏度、特異度、暘性預測值、陰性預測值和診斷符閤率均高于HbA2.結論 MCV、MCV+MCH及MCV+MCH+HbA23種不同的地貧篩查策略中,MCV+MCH的初篩效果最優；而MCV+ MCH+ HbA2在β地貧篩查中效果最優.但針對MCV和MCH篩查暘性的孕婦,可直接行α及β地貧基因診斷.
목적 탐토평균홍세포체적(MCV)、평균홍세포혈홍단백(Hb)함량(MCH)급HbA2등3항지표재지중해빈혈(지빈)사사중적개치,이급림상불동정황하지빈사사적최가책략.방법 선택2008년9월-2011년5월남방의과대학남방의원부산과급내과문진진행지빈사사화지빈기인진단적수검자1384례,기중1036례학진지빈기인휴대자위지빈조(포괄α지빈408례、β지빈608례、αβ복합형지빈20례)；348례학진비지빈기인휴대자위비지빈조.소유수검자균진행료혈액학표형지표사사,병분별대단독응용MCV、MCH화HbA2작위지빈사사지표、MCV+ MCH연합응용작위지빈사사지표이급MCV+ MCH+ HbA2연합사사재량조수검자중진단지빈적령민도、특이도、양성예측치、음성예측치화진단준학솔진행대비분석.결과 (1)지빈조MCV사사적령민도분별위:α지빈92.9％ (379/408)；β지빈99.3％( 604/608)；αβ복합형지빈100.0％( 20/20).비지빈조MCV적특이도위75.0％ (261/348).(2)지빈조MCH사사령민도분별위:α지빈92.9％( 379/408)；β지빈99.0％ (602/608)；αβ복합형지빈100.0％ (20/20).비지빈조MCH특이도위72.7％ (253/348).(3)지빈조HbA2사사적령민도분별위:α지빈67.4％( 275/408),β지빈97.5％ (593/608),αβ복합형지빈100.0％ (20/20)；비지빈조HbA2적특이도위72.4％( 252/348).(4)단독이MCV、MCH혹MCV+MCH위표형사사지표,이이HbA2작위지빈분형결과현시,HbA2＞ 3.5％작위β지빈적분형표준대림상유중요지도의의,이이HbA2＜2.5％작위α지빈적분형표준칙유교고적가음성솔.(5)MCV、MCH화HbA2단독작위지빈사사지표시,MCV화MCH적령민도、특이도、양성예측치、음성예측치화진단부합솔균고우HbA2.결론 MCV、MCV+MCH급MCV+MCH+HbA23충불동적지빈사사책략중,MCV+MCH적초사효과최우；이MCV+ MCH+ HbA2재β지빈사사중효과최우.단침대MCV화MCH사사양성적잉부,가직접행α급β지빈기인진단.
Objectives To explore the roles of mean corpuscular volume(MCV),mean corpuscular hemoglobin(MCH) and hemoglobin A2 (HbA2) in the laboratory screening of thalassemia,and to find optimal screening modality for different conditions.Methods From September 2008 to May 2011,1384 subjects underwent thalassemia screening at Department of Obstertrics and Gynecology of Nanfang Hospital.Of them,1036 cases were diagnosed with thalassemia (408 α-thalassemia,608 β-thalassemia,and 20 αβ compound thalassemia,thalassemia group) and 348 without thalassemia,non-thalassemia group.All subjects were screened respectively for MCV,MCH and HbA2.Analyses were performed in all subjects to assess the sensitivity,specificity,positive predictive value,negative predictive value and diagnostic accuracy respectively associated with MCV,MCH and HbA2 alone,combination of MCV and MCH,and combination of MCV,MCH and HbA2.Results ( 1 ) In the thalassemia group,the sensitivity of MCV alone was 92.9％ (379/408) for α thalassemia,99.3％ (604/608) for β thalassemia and 100.0％ (20/20) for αβ compound thalassemia.In the non-thalassemia group,the specificity of MCV alone was 75.0％ (261/348).(2) In the thalassemia group,the sensitivity of MCH alone was 92.9％ (379/408) in α thalassemia,99.0％ (602/608) in β thalassemia and 100.0％ (20/20) in αβ compound thalassemia.In the non-thalassemia group,the specificity of MCH alone was 72.7 ％ (253/348).(3) The sensitivity of Hb A2 alone was 67.4％ (275/408) for α thalassemia,97.5％ (593/608) for 3 thalassemia,and 100％ (20/20) for α3 compound thalassemia while it's specificity was 72.4％ (252/348) in the non-thalassemia group.(4)With positive indexes of MCV,MCH and MCV + MCH,when HbA2 ＞ 3.5％ it had a high value in [β-thalassemia screening,but when HbA2 ＜ 2.5％ it had little value in α-thalassemia screening.(5) As a single marker,MCV and MCH had better sensitivity,specificity,positive predictive value,negative predictive value and diagnosis accuracy than HbA2.MCV + MCH was the best for overall screening,but for [β thalassemia screening,MCV + MCH + HbA2 was the best.Conclusions MCV and MCH are suitable for epidemic screening in a large population,physical examination and premarital check-up.Hb electrophoresis and thalassemia gene diagnosis are recommended for subjects with positive MCV and MCH indexes.Diagnoses of α and β-thalassemia gene are recommended for pregnant women with positive MCV and MCH indexes.
