红细胞参数与G-6-PD活性对地中海贫血的筛查价值研究
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摘要
目的探讨红细胞参数[红细胞计数(RBC)、血红蛋白(Hb)、红细胞压积(Hct)、平均红细胞体积(MCV)、平均红细胞血红蛋白量(MCH)、红细胞体积分布宽度变异系数(RDW-CV)]结合葡萄糖-6-磷酸脱氢酶(G-6-PD)活性在地中海贫血(地贫)中的筛查价值。方法收集2012年1月至2018年5月就诊于该院1 160例行地贫基因检测的患者,均为小细胞低色素贫血,其中830例为地贫,330例为非地贫;比较分析地贫患者与非地贫患者红细胞参数;此外,还有111例患者同时检测了G-6-PD,其中41例为地贫患者,67例为非地贫患者,比较分析了两组间G-6-PD活性差异;最后,采用受试者工作特征曲线(ROC曲线)分析红细胞参数与G-6-PD对地贫的诊断价值。结果地贫组的RBC、Hb、Hct与G-6-PD高于非地贫组,差异有统计学意义(P<0.05)。ROC曲线分析显示,RBC、Hb与Hct的曲线下曲积(AUC)均小于0.6;G-6-PD活性≥29.67U/gHb是鉴别诊断地贫与非地贫小细胞低色素性贫血的最佳临界值(AUC>0.7)。结论联合运用红细胞参数RBC、Hb、Hct与G-6-PD活性,对从小细胞低色素贫血中筛查出地贫有一定提示价值。
Objective To explore the value of red blood cell parameters[red blood cell(RBC),hemoglobin(Hb),hematokrit(Hct),mean corpuscular volume(MCV),mean corpuscular hemoglobin(MCH),coefficient of variation of erythrocyte volume distribution width(RDW-CV)]combined with glucose-6-phosphate dehydrogenase(G-6-PD)activity in thalassemia screening.Methods A total of 1 160 patients with thalassemia gene tests were collected,they were all small cell hypochromic anemia,of which 830 were thalassemia and 330 were non-thalassemia.The erythrocyte parameters of thalassemia patients and non-thalassemia patients were compared and analyzed.In addition,108 patients were simultaneously tested for G-6-PD activity,of which 41 patients were thalassemia,and 67 patients were non-thalassemia,difference in G-6-PD activity between the two groups were compared.Receiver operating curve(ROC)of the test indicators with significant differences in values between groups was drawn.Results RBC,Hb,Hct and G-6-PD of the thalassemia group were significantly higher than the non-thalassemia group(P<0.05).The ROC results showed that the AUC of RBC,Hb and Hct were both lower than 0.6.G-6-PD activity higher than 29.67 U/gHb was a preferred threshold for differential diagnosis of thalassemia and small cell hypochromic anemia(AUC>0.7).Conclusion Combined detection of red blood cell parameters and G-6-PD activity has a certain diagnostic value for screening thalassemia from microcytic hypochromic anemia.
Objective To explore the value of red blood cell parameters[red blood cell(RBC),hemoglobin(Hb),hematokrit(Hct),mean corpuscular volume(MCV),mean corpuscular hemoglobin(MCH),coefficient of variation of erythrocyte volume distribution width(RDW-CV)]combined with glucose-6-phosphate dehydrogenase(G-6-PD)activity in thalassemia screening.Methods A total of 1 160 patients with thalassemia gene tests were collected,they were all small cell hypochromic anemia,of which 830 were thalassemia and 330 were non-thalassemia.The erythrocyte parameters of thalassemia patients and non-thalassemia patients were compared and analyzed.In addition,108 patients were simultaneously tested for G-6-PD activity,of which 41 patients were thalassemia,and 67 patients were non-thalassemia,difference in G-6-PD activity between the two groups were compared.Receiver operating curve(ROC)of the test indicators with significant differences in values between groups was drawn.Results RBC,Hb,Hct and G-6-PD of the thalassemia group were significantly higher than the non-thalassemia group(P<0.05).The ROC results showed that the AUC of RBC,Hb and Hct were both lower than 0.6.G-6-PD activity higher than 29.67 U/gHb was a preferred threshold for differential diagnosis of thalassemia and small cell hypochromic anemia(AUC>0.7).Conclusion Combined detection of red blood cell parameters and G-6-PD activity has a certain diagnostic value for screening thalassemia from microcytic hypochromic anemia.
引文
[1]周天红,张新华,刘志昂,等.轻型地中海贫血和静止型基因携带者平均红细胞体积截断值及应用[J].中国实验诊断学,2007,11(5):625-627.
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[9]KUESAP J,CHAIJAROENKUL W,RUNGSIHIRUN-RAT K,et al.Coexistence of Malaria and Thalassemia in Malaria Endemic Areas of Thailand[J].Korean J Parasitol,2015,53(3):265-270.
[10]MA ES C A,HA S Y,LAU Y,et al.Thalassemia screening based on red cell indices in the Chinese[J].Haematologica,2001,86:1310-1311.
[11]HO H Y,CENG M L,CHIU D T.Glucose-6-phosphate dehydrogenase-from oxidative stress to cellular functions and degenerative diseases[J].Redox Rep,2007,12(3):109-118.
[12]PENGON J,SVASTI S,KAMCHONWONGPAISAN S,et al.Hematological parameters and red blood cell morphological abnormality of Glucose-6-Phosphate dehydrogenase deficiency co-inherited with thalassemia[J].Hematol Oncol Stem Cell Ther,2018,11(1):18-24.
[13]PORNPRASERT S,PHANTHONG S.Anemia in patients with coinherited thalassemia and glucose-6-phosphate dehydrogenase deficiency[J].Hemoglobin,2013,37(6):536-543.
[14]BAKER R D,GREER F R,Committee on Nutrition A-merican Academy of Pediatrics.Diagnosis and prevention of iron deficiency and iron-deficiency anemia in infants and young children(0-3years of age)[J].Pediatrics,2010,126(5):1040-1050.
[15]尚红,王毓三,申子瑜,等.全国临床检验操作规程[M].北京:人民卫生出版社,2014.
[16]HSIA Y E,MIYAKAWA F,BALTAZAR J,et al.Frequency of glucose-6-phosphate dehydrogenase(G6PD)mutations in Chinese,Filipinos,and Laotians from Hawaii[J].Human Genetics,1993,92(5):470-476.
[17]陈冬,陈和平,梁玲,等.G6PD活性检测在地中海贫血诊断中的意义[J].中国优生与遗传杂志,2007,15(1):27-28.
[18]贾冰,苏晓梅.G6PD缺乏不同检测方法的临床应用[J].中国优生与遗传杂志,2010,18(7):31-32.
[19]BEUTLER E.Glucose-6-phosphate dehydrogenase deficiency:a historical perspective[J].Blood,2008,111(1):16-24.
[2]NG E H,LEUNG J H,LAU Y S,et al.Evaluation of the new red cell parameters on Beckman Coulter DxH800in distinguishing iron deficiency anaemia from thalassaemia trait[J].Int J Lab Hematol,2015,37(2):199-207.
[3]PORNPRASERT S,THICHAK S,KONGTHAI K,et al.Comparison of HbA2,E,F and Red Cell Parameters in Homozygous HbE With and Without alpha0-Thalassemia Trait[J].Lab Med,2018,49(2):118-122.
[4]SIRICHOTIYAKUL S,WANAPIRAK C,SRISUPUN-DIT K,et al.A comparison of the accuracy of the corpuscular fragility and mean corpuscular volume tests for the alpha-thalassemia 1and beta-thalassemia traits[J].Int JGynaecol Obstet,2009,107:26-29.
[5]贾冰,林志芳,李海珠,等.非贫血性地中海贫血患者红细胞和网织红细胞参数的分析[J].国际检验医学杂志,2009,30(6):540-541.
[6]SIRICHOTIYAKUL S,MANEERAT J,SA-NGUANSERM-SRI T,et al.Sensitivity and specificity of mean corpuscular volume testing for screening for a-thalassemia-1andβ-thalassemia traits[J].J Obstet Gynaecol Res,2005,31(3):198-201.
[7]张春荣,黄翠波,吴斯,等.地中海贫血患者的G6PD活性检测[J].中国优生与遗传杂志,2010,18(3):145.
[8]李文平.Rh(D)阴性冰冻解冻去甘油红细胞的常规制备与临床应用[J].重庆医学,2016,45(21):2996-2998.
[9]KUESAP J,CHAIJAROENKUL W,RUNGSIHIRUN-RAT K,et al.Coexistence of Malaria and Thalassemia in Malaria Endemic Areas of Thailand[J].Korean J Parasitol,2015,53(3):265-270.
[10]MA ES C A,HA S Y,LAU Y,et al.Thalassemia screening based on red cell indices in the Chinese[J].Haematologica,2001,86:1310-1311.
[11]HO H Y,CENG M L,CHIU D T.Glucose-6-phosphate dehydrogenase-from oxidative stress to cellular functions and degenerative diseases[J].Redox Rep,2007,12(3):109-118.
[12]PENGON J,SVASTI S,KAMCHONWONGPAISAN S,et al.Hematological parameters and red blood cell morphological abnormality of Glucose-6-Phosphate dehydrogenase deficiency co-inherited with thalassemia[J].Hematol Oncol Stem Cell Ther,2018,11(1):18-24.
[13]PORNPRASERT S,PHANTHONG S.Anemia in patients with coinherited thalassemia and glucose-6-phosphate dehydrogenase deficiency[J].Hemoglobin,2013,37(6):536-543.
[14]BAKER R D,GREER F R,Committee on Nutrition A-merican Academy of Pediatrics.Diagnosis and prevention of iron deficiency and iron-deficiency anemia in infants and young children(0-3years of age)[J].Pediatrics,2010,126(5):1040-1050.
[15]尚红,王毓三,申子瑜,等.全国临床检验操作规程[M].北京:人民卫生出版社,2014.
[16]HSIA Y E,MIYAKAWA F,BALTAZAR J,et al.Frequency of glucose-6-phosphate dehydrogenase(G6PD)mutations in Chinese,Filipinos,and Laotians from Hawaii[J].Human Genetics,1993,92(5):470-476.
[17]陈冬,陈和平,梁玲,等.G6PD活性检测在地中海贫血诊断中的意义[J].中国优生与遗传杂志,2007,15(1):27-28.
[18]贾冰,苏晓梅.G6PD缺乏不同检测方法的临床应用[J].中国优生与遗传杂志,2010,18(7):31-32.
[19]BEUTLER E.Glucose-6-phosphate dehydrogenase deficiency:a historical perspective[J].Blood,2008,111(1):16-24.