成人不同基因型地中海贫血的血常规及铁蛋白水平分析

The analysis of routine blood test and ferritin level on different gene types in adults with thalassemia

目的对164例成人地中海贫血患者的基因型、血常规及铁蛋白进行回顾性分析，探讨不同基因型地中海贫血患者血常规及铁蛋白变化情况。方法收集2008年10月-2016年1月我院门诊及住院收治164例成人地中海贫血患者的血常规、铁蛋白检测结果及α、β地中海贫血基因检测结果并进行分析。结果α地中海贫血中，-α3.7／--SEA类型的血红蛋白水平及红细胞体积明显低于其他类型；铁蛋白明显高于正常水平，且明显高于静止型和标准型（P〈0．05）。β地中海贫血类型中，-29／N类型的血红蛋白水平及红细胞体积明显低于其他类型；铁蛋白水平明显高于其他类型（P〈0．05）。结论地中海贫血多为小细胞低色素贫血，铁蛋白较正常水平升高，不同基因型贫血水平及铁蛋白水平存在显著差异。

Objective To explore the difference of routine blood test and ferritin level in adult thalassemia with different genotypes by the retrospective analysis of 164 adults. Methods Collect 164 adult patients with thalassemia in outpatient and inpatient department from October of 2008 to January of 2016 and detect the routine blood test, ferritin level and alpha or beta thalassemia gene expression. Results In patients with alpha thalassemia,the hemoglobin level and red cell volume of -α3.7/- -SEA type were significantly lower than those of other types. However, the average ferritin level value was significantly higher than normal and the patients with silent carrier and standard type（ P 〈 0.05 ）. In patients with beta thalassemia, the hemoglobin level and red cell volume of -29/N type were significantly lower than those of other types. Ferritin level was significantly higher than those of other types （ P 〈 0.05 ）. Conclusion The blood smear of Thalassemia shows microcytic anemia and ferritin level is higher than normal. There are significant differences in the level of anaemia and ferritin in patients with different genotypes.