MCV与SF联合检测对筛查产前地中海贫血基因携带者的价值

目的探讨MCV与SF联合检测在产前地中海贫血基因携带者筛查中的临床应用价值。方法对本地区产前检查的孕妇,作地中海贫血基因分析,血常规红细胞参数检测,铁代谢指标血清铁(SI)、血清铁蛋白(SF)测定。对已明确诊断的地贫组84例,缺铁性贫血(IDA)组76例,进行红细胞参数(RBC、Hb、HCT、MCV、MCH、MCHC、RDW、RET)以及铁代谢指标SF、SI结果的比较。将各检测结果与地中海贫血基因诊断结果比较,分析各筛查方法的敏感性和特异性。结果地贫组和IDA组Hb、HCT、MCV、MCH和MCHC均减低,RDW和RET均增高,与健康对照组比较,差异均有统计学意义(P均<0.01)。地贫组与IDA组比较,地贫组MCV减低较IDA组明显,两者之间差异有统计学意义(P<0.01)。IDA组SF降低,而地贫组SF增高,两者之间差异有统计学意义(P<0.01)。对照基因检测结果,MCV诊断地贫组基因携带者的敏感性为97.6%,特异性为54.5%,若联合SF检测,特异性可达97.0%。结论MCV结合SF检测可作为产前地贫携带者筛查的简便而有价值的指标。

The Value of the Combined Tests of Mean Corpuscular Volume and Serum Ferritin for Screening Mild Thalassemia in Prenatal Population

Objective To study the value of the combined tests of mean corpuscular volume（MCV） and serum ferritin （SF） for screening mild thalassemia in prenatal population. Methods Haematological routine, thalassemia gene analysis,serum iron （SI） test and serum ferritin test were done for all samples.Values of RBC, Hb, HCT, MCV, MCH , MCHC, RET, RDW, SI and SF were used for comparative study of iron deficiency anemia （ n = 76） and mild tha- lassemia （ n = 84）. And the results were campared with gene analysis in order to evaluating sensitivity and specificity of haematological indices. Results Compared with the normal group, RBC parameters including Hb, HCT, MCV, MCH and MCHC in IDA and thalassemia groups were significantly decreased , RDW and RET significantly increased （ P 〈 0.01）. MCV in thalassemia group was significantly lower than that in IDA group （ P 〈 0.01） .SF in IDA group was obviously lower than that in the control （ P 〈 0.01 ） but SF in thalassemia group obviously higher than that in the control （ P 〈 0.01）.In addition, comparing with gene analysis, the sensitivity and specificity of MCV was 97.6% and 54.5 % respectively in diagnosing thalassemia, the specificity of the combined tests of MC~ and SF was 97 % in diagnosing thalassemia. Conclusion The combined tests of MCV and SF may be a simple and effective laboratory means for screening mild thalassemia in prenatal population.