武汉地区10例儿童αβ复合型地中海贫血临床特征分析

Clinical characteristics analysis of 10 children with αβ-thalassemia in Wuhan area

目的分析武汉地区10例儿童αβ复合型地中海贫血临床特征。方法选择2018年2月—2021年4月在武汉市同济医院进行地中海贫血基因检测的儿童,采用自动血细胞分析仪分析血常规,对平均红细胞体积(MCV)≤82fL及平均血红蛋白含量(MCH)≤27pg者进行地贫基因检测,Gap-PCR法检测α地贫基因,RDB-PCR法检测β地贫基因。结果(1)检出10例αβ复合型地中海贫血,共7种基因型,其中4例为β地贫复合--^(SEA)/αα,3例为复合-α^(4.2)/αα,3例为复合-α^(3.7)/αα。(2)除病例6外,其余9例αβ复合型地中海贫血临床表现较轻。(3)实验室检查结果显示10例αβ复合型地贫患者血红蛋白均>90 g/L,与单纯β/α地贫比较,αβ复合型地贫MCV(P<0.001、P=0.028)、MCH(P<0.001、P=0.003)均较高,血红蛋白A2(Hemoglobin A2,HBA2)较单纯β地贫低(P=0.03),较单纯α地贫(P<0.001)高,差异有统计学意义。结论(1)αβ复合型地中海贫血基因型多样,此次检测结果主要以β突变复合-^(SEA)/αα多见。(2)αβ复合型地中海贫血临床表现轻,极易漏诊。(3)αβ复合型地中海贫血实验室检查表现为小细胞低色素性贫血,程度较轻,通过血常规可能无法与单纯β/α地中海贫血鉴别,结合血红蛋白电泳及基因检测可明确诊断。

Objective To analyze the clinical characteristics of 10 children with αβ-thalassemia in Wuhan area.Methods Children who underwent genetic testing for thalassemia in Tongji Hospital of Wuhan from February 2018 to April 2021 were selected and their blood routine was analyzed by automatic hematology analyzer.Mean corpuscular volume(MCV)≤82fL and mean corpuscular hemoglobin(MCH)≤27pg were tested for thalassemia gene.Gap-pcr was used to detectαthalassemia gene.βthalassemia gene was detected by RDB-PCR.Results①10 cases of αβ-thalassemia with 7 genotypes were detected,among which 4 cases were β-thalassemia complex -^(SEA)/αα,3 cases were complex -α^(4.2)/αα,3 cases were complex -α^(3.7)/αα.②Except for case 6,the other 9 patients with αβ-thalassemia showed mild clinical manifestations.③The results of laboratory examination showed that the hemoglobin of 10 patients with αβ combined thalassemia was>90 g/L,and the MCV(P<0.001,P=0.028)and MCH(P<0.001,P=0.003)of αβ combined thalassemia were higher than those of β/α combined thalassemia.Hemoglobin A2(HBA2)was lower than that of simple β thalopenia(P=0.03)and higher than that of simpleαthalopenia(P<0.001),and the difference was statistically significant.Conclusions①αβ complex thalassemia has various genotypes,and the β mutation complex -^(SEA)/αα was the most common genotype.②The αβ-thalassemia has mild clinical manifestations and is easy to misdiagnose.③The laboratory examination of αβ-thalassemia shows small cell hypochromic anemia,and the degree is relatively mild.It may not be differentiated from pure β/α-thalassemia by blood routine,combined with hemoglobin electrophoresis and gene detection,the diagnosis can be confirmed.