CAJ | 학술논문

目的：探讨珠蛋白生成障碍性贫血（地贫）基因型与红细胞参数之间的相关性。方法选取2012年2月至2013年6月佛山市第二人民医院315例成年α地贫基因携带者，根据其缺失α基因个数分3组，缺失1个基因者为 A 组；缺失2个基因者为 B 组；缺失3个基因者为 C 组。选取中国人群最常见的4种β-地贫基因突变型的基因携带者165例，分为 CD41-42组，IVS2nt654组，-28组，CD17组，及αβ复合型地贫组，选取同期100名健康体检者做对照组，回顾性分析各组红细胞（RBC）参数，采用方差分析及 SNK 检验比较上述各组间红细胞参数的差异。结果α基因缺失个数与 RBC 及红细胞分布宽度变异系数（RDW-CV）呈正相关（r ＝0．872，0．561；P＜0．05）；与血红蛋白（Hb），平均红细胞体积（MCV ），平均血红蛋白含量（MCH ），平均血红蛋白浓度（MCHC ）呈负相关（r ＝-0．708，-0．901，-0．826，-0．735，P ＜0．05）。β地贫基因型及αβ复合型地贫统计学分析比较显示，RBC 、MCHC 、RDW-CV 在各组间比较，差异无统计学意义（P＞0．05）；而 Hb 、MCV 、MCH 在各组间比较，差异有统计学意义（P＜0．05）。结论α地贫的贫血程度与缺失α珠蛋白基因的个数密切相关。而对于中国人群最常见的4种β-地贫基因突变来说，所引起的血液学表型相差不大。
목적：탐토주단백생성장애성빈혈（지빈）기인형여홍세포삼수지간적상관성。방법선취2012년2월지2013년6월불산시제이인민의원315례성년α지빈기인휴대자，근거기결실α기인개수분3조，결실1개기인자위 A 조；결실2개기인자위 B 조；결실3개기인자위 C 조。선취중국인군최상견적4충β-지빈기인돌변형적기인휴대자165례，분위 CD41-42조，IVS2nt654조，-28조，CD17조，급αβ복합형지빈조，선취동기100명건강체검자주대조조，회고성분석각조홍세포（RBC）삼수，채용방차분석급 SNK 검험비교상술각조간홍세포삼수적차이。결과α기인결실개수여 RBC 급홍세포분포관도변이계수（RDW-CV）정정상관（r ＝0．872，0．561；P＜0．05）；여혈홍단백（Hb），평균홍세포체적（MCV ），평균혈홍단백함량（MCH ），평균혈홍단백농도（MCHC ）정부상관（r ＝-0．708，-0．901，-0．826，-0．735，P ＜0．05）。β지빈기인형급αβ복합형지빈통계학분석비교현시，RBC 、MCHC 、RDW-CV 재각조간비교，차이무통계학의의（P＞0．05）；이 Hb 、MCV 、MCH 재각조간비교，차이유통계학의의（P＜0．05）。결론α지빈적빈혈정도여결실α주단백기인적개수밀절상관。이대우중국인군최상견적4충β-지빈기인돌변래설，소인기적혈액학표형상차불대。
Objective To investigate the correlation between the erythrocyte parameters and the genotypes of thalassemia .Methods A total of 315 carriers with various genotypes of a-thalassemia were selected and classified in-to three groups based on the number of gene deletion ,patients with one gene deletion were in group A ,patients with two genes deletion were in group B ,patients with three genes deletion were in group C .A total of 165 adult β-thalas-semia gene carriers were selected and divided into group CD 41-42 ,group IVS2nt654 ,group -28 ,group CD17 and group αβcomplex thalassemia .Other 100 healthy people were selected as control group .The erythrocyte parameters including red blood corpuscle( RBC) ,Haemoglobin B (Hb) ,mean corpuscular volume(MCV) ,mean corpuscular he-moglobin (MCH) ,mean corpuscular hemoglobin concentration (MCHC) and red cell distribution width-variable co-efficient (RDW-CV )were retrospectively analyzed and the differences of these indicators among aboved-mentioned groups were compared by analysis of variance and SNK test .Results There were positive correlations between the number of deleted α-globin gene and that of RBC and RDW-CV (r = 0 .872 ,0 .561 ,P< 0 .05) .Nevertheless ,there was negative correlation between the number of deleted α-globin gene and that of the other erythrocyte indices (r = - 0 .708 ,- 0 .901 ,-0 .826 ,- 0 .735 ,P< 0 .05) .There was no statistically significant difference on RBC ,MCHC and RDW-CV be-tween the most common four kinds of β-thalassemia and αβ complex thalassemia .Conclusion There would be close correla-tion between the degree of anemia and the number of deleted α-globin gene .Nevertheless ,for the most common four kinds ofβ-globin gene mutations in China ,they cause little difference in haematological phenotype .