摘要
目的研究潮州地区儿童地中海贫血的基因突变类型、基因频率及红细胞数在地中海贫血的诊断价值。方法采用GAP-PCR和反向点杂交法(Reverse Dot Blot)对儿童进行地中海贫血基因分析,并分析其红细胞数、血红蛋白、平均红细胞体积。结果本次研究共检出儿童地中海贫血基因携带者146名,其中α地中海贫血基因携带者108名(73.97%),常见的类型是--SEA(63.01%),其次为-α4.2(2.06%)与-α3.7(6.16%),血红蛋白H病4名,β地中海贫血携带者35名(23.97%),β地中海贫血基因型为654M(12.33%),41-42M(7.53%),17M(0.69%),71-72M(2.73%),28M(0.69%),复合型地中海贫血3例,数据显示α地中海贫血基因携带者红细胞数目>β地中海贫血基因携带者>α+地中海贫血基因携带者与正常儿童。结论本研究初步揭示了潮州地区儿童地中海贫血的基因突变类型及基因频率,并初步推断出RBC数目在儿童中对于地中海贫血的诊断有参考价值。
Objective To explore the diagnostic value of genotypes,gene frequency and red blood cell（RBC） count in children with thalassanemia in Chaozhou region.Methods The genotypes and gene frequency in thalassanemia were analyzed by GAP-PCR and reverse dot blot technique,and RBC count,hemoglobin and MCV were also tested.Results One hundred and sixty four thalassanemia carriers were founded,in which there were 108 cases of α-thalassemia carrier（73.97%）,35 cases of β-thalassemia carrier（23.97%） and 3 case of combination thalassanemia children.In patients with α-thalassemia,there were——SEA（63.01%）,-α4.2（2.06%）,-α3.7（6.16%） and 4 cases of hemoglobin H disease;In patients with β-thalassemia,the gene mutation types were 654M（12.33%）,41-42M（7.53%）,17M（0.69%）,71-72M（2.73%）,28M（0.69%）.The RBC count of α0-thalassemia carriersβ-thalassemia carriersα＋-thalassemia carriers and normal children.Conclusion The genotypes and gene frequency of thalassanemia in Chaozhou are revealed.RBC count is valuable in the diagnostic of children with thalassanemia.
出处
《中华全科医学》
2012年第6期877-879,共3页
Chinese Journal of General Practice
