β地中海贫血患儿252例基因缺陷类型分析

Gene Types in 252 Children Carried β-Thalassanemia

目的分析深圳地区β地中海贫血(简称“地贫”)患儿珠蛋白基因缺陷类型,为开展相关的研究与治疗提供依据。方法通过血液常规检查和红细胞渗透脆性分析筛查地贫患儿,用血红蛋白电泳和基因诊断明确诊断并分析基因型。结果252例β地贫中,纯合子8例,基因型分别是IVS2nt654(50.0%),CD28(37.5%)和CD41-42(12.5%);杂合子231例,基因型分别是CD41-42(42.0%),IVS2nt654(39.4%),CD17(10.8%),β-28(3.0%),CD43(1.3%),β-29(0.9%),CD14-15(0.9%),CD27-28(0.9%),CD1-5(0.4%)和CD71-72(0.4%);双重杂合子13例,基因型分别是IVS2nt654/CD41-42(38.5%),IVS2nt654/CD17(15.4%),CD41-42/β-28(15.4%),CD17/CD41-42(7.7%),CD41-42/CD43(7.7%),IVS2nt654/β-28(7.7%)和CD17/βE(7.7%)。结论深圳地区β地中海贫血患儿珠蛋白基因缺陷类型共有11种,呈现多样性。

Objective To analyze the genes type in offspring of β-thalassanemia carriers in Shenzhen, and to provide evidence for related research and treatment. Methods β-thalassanemia carriers were screened by using routine examination and the red celt osmotic fragility analysis. Hb, electrophoresis and reverse dot blot hybridization were used to diagnose and analyze gene types. Results Among 252 eases of β-thalassanemia, there were 8 eases of homozygote, the gene types were respectively IVS2nt654（50.0%）, CD28（37.5%） and CD41-42（ 12.5% ）, 231 of heterozygote, the gene types were CD41-42（42.0%）, IVS2nt654（39.4%）, CD17（10.8%）, β-28（3.0）, CD43（1.3%）, β-29（0.9%）, CD14-15（0.9%）, CD27-28（0.9%） and CD1-5（0.4% ） and CD71-72（0.4%） ; 13 of double heterzygote, the gene types were respectively IVS2nt654/CD41-42（38.5%）, IVS2nt654/CD17（15.4%）, CD41-42/β-28（15.4%）, CD17/CD41-42（7.7%）, CD41-42/CD43 （7.7%）, IVS2nt654/β-28（7.7%） and CD17/βE（7.7%）. Conclusion The total of 11 types of gene mutation in β-thalassanemia carriers are multiple in Shenzhen area.