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目的了解十堰市新生儿人群中α、β地中海贫血检出率及基因型的分布情况。方法送检对象来自十堰市共计38 626例样本,采用Sebia公司生产的毛细管血红蛋白电泳仪对新生儿足跟血片进行初筛,筛查阳性的新生儿召回采静脉血2ml标本进行α、β地中海贫血基因检测。结果 38 626例样本初筛出可疑阳性患儿1398例(筛查阳性率3.62%),对1398例疑似患儿做基因确诊试验,共检出α、β地贫501例(筛查确诊率为35.84%,人群阳性率1.29%)。α地贫318例,占63.47%,其中居前三位α地贫基因缺失型为--SEA/αα(195例),-α3.7/αα(70例),-α4.2/αα(23例),以--SEA/αα基因型最为常见;其次,检出3种α地贫基因突变型:αQS20例、αCS5例、αWS2例,--SEA/-α3.7双重缺失1例,-α3.7/αQSα缺失合并突变1例。检出β地贫基因型7种共165例,占32.93%,分别为IVS-2-654(C→T)60例、CD41-42(-TCTT)40例、CD17(A→T)23例、CD26(G→A)20例、CD27-28(+C)10例、CD71-72(+A)10例、-28(A→G)2例、其中以IVS-2-654(C→T)位点突变所占比例最高。α/β复合地中海贫血基因类型共检出18例,占3.59%,均为轻型。结论十堰市新生儿地中海贫血阳性检出率为1.29%,α地中海贫血以--SEA/αα基因型最为常见,β地中海贫血则以IVS-2-654(C→T)位点的突变最为常见,只检出1例中间型α地贫,未检出重型。通过开展地贫筛查,地中海贫血预防缺陷工作得到了很大的推进。
Objective To understand the detection rate and genotype distribution of α, β thalassemia in newborns in Shiyan. Methods A total of 38 626 samples were collected from Shiyan City. Sebia capillary hemoglobin electrophoresis was used to screen the heel of the newborn. Screening positive neonates recalled 2 ml samples of venous blood for α, β medial Anemia genetic testing. RESULTS: A total of 38626 samples were initially screened out from 1398 suspicious positive children (screening positive rate was 3.62%). 1398 cases of suspected children were diagnosed genetically and 501 cases of α, β thalassemia were detected (the screening diagnosis rate was 35.84%, population positive rate 1.29%). Alpha thalassemia was found in 318 cases, accounting for 63.47%. Among them, the deletion type of the top three α-thalassemia genes was -SEA / αα (195 cases), α3.7 / αα (70 cases), --α4.2 / αα 23 cases), the most common was --SEA / αα genotype. Secondly, three kinds of α thalassemia gene mutation were detected: 20 cases of αQS, 5 cases of αCS, 2 cases of αWS and 1 case of double deletion of - SEA / -α3.7, -α3.7 / αQSα deletion mutation in 1 case. Seven kinds of β-thalassemia were detected in 165 cases (32.93%), including 60 cases of IVS-2-654 (C → T), 40 cases of CD41-42 (-TCTT) and 23 cases of CD17 (A → T) , 20 cases of CD26 (G → A), 10 cases of CD27-28 (+ C), 10 cases of CD71-72 (+ A) and -28 cases of A → G T) site mutations accounted for the highest proportion. A / β-thalassemia gene types were detected in 18 cases, accounting for 3.59%, all were light. Conclusions The positive rate of thalassemia in newborns in Shiyan is 1.29%. The highest prevalence of -SEA / αα is found in α-thalassemia and the mutation of IVS-2-654 (C → T) is the most common in β-thalassemia. , Only one case of intermediate α-thalassemia was detected, but no heavy type was detected. Thalassemia prevention flaws have been greatly advanced through the conduct of thalassemia screening.