摘要
目的:研究重型β-地中海贫血(β-Thalassemia major,β-TM)基因突变类型分布情况,探讨基因突变类型与临床特征的相关性。方法:回顾性分析2010年至2012年重庆医科大学附属儿童医院住院治疗的101例重型β-TM患儿临床资料,采用方差分析或秩和检验比较不同基因型的临床特征差异。结果:本研究中患儿主要症状及体征包括贫血(101例,100%)、黄疸(81例,80.2%)、肝脾肿大(70例,69.3%;89例,88.1%)。外周血大多呈小细胞低色素贫血表现,血红蛋白电泳及基因检查发现其中10例患儿为β-TM复合Hb E病,所有初诊Hb F均明显增高,平均64.39%;101例β-TM患儿中1例合并缺铁性贫血;基因检测共发现10种β基因突变类型,前5位突变位点为CD41-42(64/202,31.68%)、CD17(57/202,28.22%)、IVS-2-654(51/202,25.25%)、TATAbox-28(8/202,3.96%)和TATAbox-29(4/202,1.98%)。发病例数较多的基因突变类型有CD17/CD17(13/101,12.9%)、CD41-42/CD41-42(13/101,12.9%)、CD17/IVS-2-654(11/101,10.9%)、CD17/CD41-42(14/101,13.9%)、CD41-42/IVS-2-654(17/101,16.8%),组间的发病年龄、红细胞计数(erythrocyte count,RBC)、血红蛋白水平(hemoglobin,Hb)、胆红素水平、肝脾肿大程度及输血间隔时间无明显差异,CD17/CD17组的平均红细胞体积(mean corpuscular volume,MCV)低下程度较CD17/CD41-42明显(P=0.007)。101例β-TM患儿中失访率达44.6%,输血治疗率75%,祛铁治疗率26.8%。结论:β-TM患儿的主要临床表现为贫血、黄疸、肝脾肿大;β-TM复合Hb E病可表现为重型;β-TM可合并缺铁性贫血;本研究中β-TM基因突变以CD41-42、IVS-2-654、CD17、TATAbox-28和TATAbox-29为主;β0/β+与β0/β0表型比较临床表现及实验室检查发现仅β0/β0组的MCV较β0/β+低;本研究中患者失访率高,治疗率偏低,故其管理十分重要。
Objective：To study the distribution status,clinical manifestation of different gene types with β-thalassemia major.Methods：The clinical data of 101 β-thalassemia major patients admitted to Children＇s Hospital of Chongqing Medical University from January 2010 to December 2012 were retrospectively reviewed. The clinical manifestations,treatment and prognosis were identified in different gene types through analysis. Results：The main clinical symptoms and physical signs include anemia（101,100%）,jaundice（81,80.2%）,hepatomegaly（70,69.3%）and splenomegaly（89,88.1%）. The peripheral hematogram of the patients exhibited as microcytic-hypochromic anemia. Ten in 101 cases discovered abnormal slow stripes in hemoglobin electrophoresis,and they proved out to be βthalassemia composed Hb E by gene examination. Eighty-two patients detected Hb F and all case＇Hb F rose up before blood transfusion.Only one patient had iron-deficiency anemia. There were 10 gene types from 101 cases,the main genetic mutations were CD41-42（64/202,31.68%）,CD17（57/202,28.22%）,IVS-2-654（51/202,25.25%）,TATAbox-28（8/202,3.96%）and TATAbox-29（4/202,1.98%）. The main genotypes were CD17/CD17（13/101,12.9%）,CD41-42/CD41-42（13/101,12.9%）,CD17/IVS-2-654（11/101,10.9%）,CD17/CD41-42（14/101,13.9%）,CD41-42/IVS-2-654（17/101,16.8%）,and there was no difference in the age of onset,erythrocyte count,hemoglobin,swelling of livers and spleens,blood transfusion interval between groups. The mean corpuscular volume（MCV） of genotype CD17/IVS-2-654 was bigger than that of CD17/CD17（P=0.007）.Loss of visit rate of the 101 cases was 44.6%,the rate of blood transfusion treatment was 75%,otherwise the rate of iron chelation was26.8%. Conclusions：The main clinical manifestations of β-thalassemia major are anemia,jaundice,hepatomegaly and splenomegaly.β-thalassemia composed Hb E may display as thalassemia major. β-Thalassemia major may complicate with iron-deficiency anemia.The main genetic mutations are CD41-42,CD17,IVS-2-654,TATAbox-28 and TATAbox-29. The MCV was bigger in β0/β＋ genotypes than β0/β0genotypes. Loss of follow up is high and treatment rate is low in this study,so management is very important for these patients.
出处
《重庆医科大学学报》
CAS
CSCD
北大核心
2015年第4期555-559,共5页
Journal of Chongqing Medical University
基金
重庆市卫生局医学科学技术研究重点资助项目(编号:2010-1-42)
