劉炳 蔣淼路 鄭凡 江燕紅

【摘 要】

目的：應(yīng)用毛細(xì)管血紅蛋白電泳技術(shù)篩查疑似地中海貧血患兒，為查找貧血原因提供參考價(jià)值。提高地中海貧血患兒生存質(zhì)量和預(yù)后治療提供有力保障。

方法 選取134例貧血患者作為研究組，選取50例非貧血健康者作為對(duì)照組。開展血液常規(guī)分析、血紅蛋白各組分定量檢測(cè)、地中海貧血相關(guān)基因檢測(cè)，并以基因檢測(cè)為確診實(shí)驗(yàn)。計(jì)算各方法的靈敏度、特異度、陽性預(yù)測(cè)值、陰性預(yù)測(cè)，對(duì)比兩組數(shù)據(jù)的檢測(cè)結(jié)果，選擇適合各級(jí)醫(yī)療機(jī)構(gòu)開展的地中海貧血實(shí)驗(yàn)的篩查方法。

結(jié)果：134例標(biāo)本中，血液常規(guī)分析異常109例、陽性率為81.3%、敏感性為100%、特異性為39.7%、陽性預(yù)測(cè)值為57.8%、陰性預(yù)測(cè)值為100%；血紅蛋白電泳異常占83例、陽性率為61.9%、敏感性為100%、特異性為80.9%、陽性預(yù)測(cè)值為75.9%、陰性預(yù)測(cè)值為100%；基因?qū)嶒?yàn)陽性占63例，陽性率為47%。

結(jié)論 全自動(dòng)毛細(xì)管電泳技術(shù)具有自動(dòng)化程度高、檢測(cè)結(jié)果準(zhǔn)確快速，符合基因診斷，且方便快捷簡(jiǎn)單等，值得大力推廣。

【關(guān)鍵詞】毛細(xì)管電泳 ；地中海貧血 ； 基因確診

Abstract Objective：

Purpose Applying the technology of capillary hemoglobin electrophoresis to screening children suspected of thalassemia， providing reference value for finding out the cause of anemia. To improve the quality of life and prognosis of children with thalassemia to provide effective protection.

Method Select 134 patients with anemia as study group and 50 cases of non-anemia healthy persons as control group. Carry out routine blood analysis， quantitative determination of hemoglobin components， detection of genes associated with thalassemia， and using gene detection as a diagnostic test. Calculate the sensitivity， specificity， positive predictive value， negative predictive value of each method， compare the results of two groups of data， select screening Methods：suitable for thalassemia experiments conducted by medical institutions at all levels.

Result： in the 134 specimens， there were abnormal 109 cases of routine blood analysis， the positive rate was 81.3%， the sensitivity was 100%， the specificity was 39.7%， the positive predictive value was 57.8%， negative predictive value was 100%； there were abnormal 83 cases of hemoglobin electrophoresis， the positive rate was 61.9% and the sensitivity was 100%， the specificity was 80.9%， the positive predictive value was 75.9%， negative predictive value was 100%； there were 63 cases of positive gene experiment， The positive rate was 47%.

Conclusion： Automatic capillary electrophoresis is worth popularizing not only with high degree of automation， accurate and fast results but also conforms to genetic diagnosis， conveniently， quickly and convenient， etc.For worth promoting.

Key words： Capillary electrophoresis；Thalassemia；genetic diagnosis

【中圖分類號(hào)】 R249

【文獻(xiàn)標(biāo)識(shí)碼】 A

【文章編號(hào)】 1672-3783（2019）02-03-153-01

貧血是兒科常見疾病之一，若不引起充分的重視，會(huì)導(dǎo)致一系列的嚴(yán)重后果，從而影響生長(zhǎng)發(fā)育。因此對(duì)于臨床小兒貧血的診斷相當(dāng)關(guān)鍵，查找貧血原因，對(duì)貧血對(duì)因治療尤為重要，其中地中海貧血臨床表現(xiàn)無明顯的特異性，主要表現(xiàn)為黃疸、肝脾腫大、發(fā)育不良等，極嚴(yán)重者可能引發(fā)死亡[1]。臨床診斷較困難，主要依據(jù)實(shí)驗(yàn)室診斷。隨著精準(zhǔn)醫(yī)療的發(fā)展與進(jìn)步，對(duì)臨床診療越來越提出嚴(yán)苛的要求，為提高臨床診斷效率，全自動(dòng)毛細(xì)管電泳技術(shù)應(yīng)運(yùn)而生。雖然目前用于明確診斷地中海貧血的是PCR技術(shù)結(jié)合分子生物學(xué)方法[2]，由于分子生物學(xué)技術(shù)要求高，價(jià)格昂貴等，不利于大面積人群篩查[3]；血紅蛋白分析儀難以檢出異常血紅蛋白病[4]。因此本文研究毛細(xì)管電泳技術(shù)從而篩查出地中海貧血患者，以利于其在以后的醫(yī)學(xué)診斷和預(yù)后觀察中起重要作用?，F(xiàn)將本研究結(jié)果匯報(bào)如下。