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目的调查海南地区儿童发生小细胞低色素性贫血的病因。方法对海南地区297例小细胞低色素性贫血儿童进行珠蛋白基因型检测及铁代谢状态和其他血液学指标检查。结果在所研究的297例小细胞低色素性贫血儿童病例中,分别检出α-地中海贫血161例[合并铁缺乏症(ID)62例],β-地中海贫血91例(合并ID 15例),α-地中海贫血复合β-地中海贫血34例(合并ID 5例),铁缺乏161例(合并地中海贫血82例)。地中海贫血检出率为73.4%,铁缺乏检出率为54.21%。此外,还发现单纯性小细胞低色素症(MCV和MCH均降低,但不贫血)个体有较高的地中海贫血基因检出率69.7%和携带率79.07%。结论地中海贫血是引起海南籍儿童发生小细胞低色素性贫血特别是单纯性小细胞低色素症最主要的原因,其次为地中海贫血合并铁缺乏症(ID),ID位居第3。同时还发现ID个体有较高的地中海贫血基因检出率。
Objective To investigate the etiology of small cell hypochromic anemia in children in Hainan Province. Methods A total of 297 children with microcytic hypochromic anemia in Hainan were tested for their genotypes and iron status and other hematological parameters. Results Among the 297 children with hypochromic anemia, 161 cases of α-thalassemia (62 with iron deficiency deficiency) and 91 cases of β-thalassemia (ID 15) , 34 cases of α-thalassemia combined with β-thalassemia (5 cases with ID), 161 cases of iron deficiency (82 cases with thalassemia). The detection rate of thalassemia was 73.4% and the detection rate of iron deficiency was 54.21%. In addition, individuals with simplexocytosis (both MCV and MCH decreased, but not anemic) were found to have a high thalassemia gene detection rate of 69.7% and a carriage rate of 79.07%. Conclusions Thalassemia is the most common cause of small cell hypochromic anemia especially simplex cell hypochromia in Hainan children, followed by Mediterranean anemia with iron deficiency (ID), with ID number 3. Also found that ID individuals have a higher detection rate of thalassemia genes.