基因突变合并缺失型α-地中海贫血患者血液学表型的回顾性分析

Retrospective Analysis of Hematological Phenotypes in Patients with Gene Mutation and Deletion α-Thalassemia

目的:探讨不同基因突变合并缺失型α-地中海贫血患者血液学表型之间的差异。方法:通过筛查中山大学附属第一医院2015年1月至2020年4月α-地中海贫血基因的检测结果,获取基因突变合并缺失型α-地中海贫血患者,并回顾性分析不同基因型患者血液学表型之间的差异。结果:通过筛选24 054例α-地中海贫血检测的结果,共得基因突变合并缺失型α-地中海贫血患者96例(发病率为0.42%),其中非缺失型Hb H病(α^(T)α/--^(SEA))患者79例,轻型α—地中海贫血(α Tα/-α)患者17例。除了红细胞数量(RBC)、平均红细胞体积(MCV),α^(T)α/--^(SEA)型患者的血红蛋白浓度(Hb)、红细胞比积(Ht)、红细胞平均血红蛋白浓度(MCHC)、平均红细胞血红蛋白量(MCH)、平均红细胞体积(MCV)均明显低于αTα/-α型患者。α^(S)α/--SEA与α^(QS)α/--^(SEA)型患者的Hb分别为(86±20) g/L、(84±9)g/L,均明显低于α^(WS)α/--^(SEA)型患者(114±16) g/L (P<0.05);α^(CS)α/--^(SEA)与α^(QS)α/--^(SEA)型患者的 MCHC 分别为(278.8±8.5) g/L、(282.1±21.1) g/L,也明显低于α^(WS)α/--^(SEA)型患者(315.4±19.5) g/L(P<0.05);α^(CS)α/--^(SEA)与α^(QS)α/--^(SEA)型患者之间血液学表型无明显差异。除了 MCH、MCV,α^(WS)α/--^(SEA)与αTα/-α型患者的RBC、Hb、Ht均无明显差异。仅有27例同时进行了 Hb电泳分析,Hb A_(2)结果为(2.3±0.9) %,α^(T)α/--^(SEA)与αTα/-α型以及不同α^(T)α/--^(SEA)型患者Hb A_(2)之间均无明显差异。结论:α^(WS)α/--^(SEA)型与轻型α-地中海贫血患者的血液学表型变化相似,明显较α^(CS)α/--^(SEA)与α^(QS)α/--^(SEA)两型患者轻。

Objective:To explore the differences between hematological phenotypes of patients with different genotypes in gene mutations and deletion α-thalassemia.Methods:By screening the α-thalassemia gene test results in the First Affiliated Hospital,Sun Yat-Sen University from January 2015 to April 2020,the patients with mutation and deletion α-thalassemia were obtained,then the differences between hematological phenotypes of patients with different genotypes were analyzed.Results:There were 96 patients with mutation combined with deletion α-thalassemia from the results of 24 054 α-thalassemia patients screened out,including 79 patients with non-deletion Hb H disease(α^(T)α/--^(SEA))and 17 patients with mild α-thalassemia(α Tα/-α),the incidence was 0.42%.Except the number of red blood cells(RBC) and mean corpuscular volume(MCV),the hemoglobin(Hb) concentration,hematocrit(Ht),average red blood cell hemoglobin concentration(MCHC),average red blood cell hemoglobin amount(MCH),average red blood cell volume(MCV) of the patients with α^(T)α/--^(SEA) genotype were significantly lower than those with αTα/-α genotype.The Hb of the patients with α α^(CS)α/--SEA and α^(QS)α/--SEA genotype was(86±20)g/L and(84±9)g/L,respectirely,which was significantly lower than(114±16) g/L of α^(WS)α/--^(SEA) genotype(P<0.05);The MCHC of patients with α^(CS)α/--^(SEA) andα^(QS)α/--^(SEA) genotype was(278.8±8.5) g/L and(282.1±21.1)g/L,respectirely,which was also significantly lower than(315.4±19.5) g/L of α^(WS)α/--^(SEA) genotype(P<0.05);There was no significant difference between the patients withα^(CS)α/--^(SEA) and α^(QS)α/--^(SEA) genotype in hematological phenotypes.Except MCH and MCV,there was no significant differences between the patients with α^(WS)α/--^(SEA) and α Tα/-α genotype in RBC,Hb,and Ht.The result of Hb A_(2) was(2.3±0.9)% for only 27 patients who performed electrophoretic analysis.There was no significant difference between the patients with α^(T)α/--^(SEA) and α Tα/-α genotype in Hb A_(2),aslo among 3 types of the patients with α^(T)α/--^(SEA) genotype.Conclusion:The hematological phenotype changes caused by α^(WS)α/--^(SEA) genotype are similar to those of mild α-thalassemia,and both of them are significantly lighter than those patients with α α^(CS)α/--SEA and α^(QS)α/--SEA genotype.