铁缺乏对轻型β-珠蛋白生成障碍性贫血血红蛋白A_2水平的影响(英文)

Effect of Iron Deficiency on Hemoglobin A_2 Level in Patients with β-Thalassemia

目的研究铁缺乏对β-珠蛋白生成障碍性贫血(β-地贫)患者血红蛋白A2(HbA2)的影响。方法标本来自2008年5月-2010年5月在桂林医学院附属医院儿科、产科门诊及重型β-地贫家系,对所有标本进行血常规检查、血红蛋白电泳并定量测定HbA2值、免疫荧光法测定血清铁蛋白(SF)、Multi-PCR法确定3种缺失型α-地贫基因突变、PCR结合反向斑点杂交法确定17种β-地贫基因突变。结果 408份标本中,A组304例,B组26例,C组56例,D组22例,将各组进行计量资料两样本均数的比较,其中A组与B组比较q=5.074 7,P<0.05,A组与C组比较q=37.650 8,P<0.05,A组与D组比较q=16.043 0,P<0.05,C组与D组比较q=7.682 9,P<0.05,B组与D组比较q=15.806 6,P<0.05。4组的SF和HbA2的相关性检测均无显著性差异。结论 1.铁缺乏会使健康人和轻型β-地贫患者血红蛋白电泳时HbA2值下降;2.轻型β-地贫合并铁缺乏时HbA2值较单纯轻型β-地贫下降显著,但仍较健康人群高,差异有统计学意义,可见即使合并铁缺乏,HbA2仍可以作为临床诊断轻型β-地贫的可靠指标。

Objective To determine the effect of iron deficiency on hemoglobin A2（HbA2） expression in patients with β-thalassemia.Methods The participants were recruited from the out-patient clinics of the Pediatrics Department and Obstetrics Department of Affiliated Hospital of Guilin Medical College and from some β-thalassemia major families.Blood samples from the participants were used for blood smear tests and hemoglobin electrophoresis and to analyze serum ferritin（SF）,3 alpha-globin gene deletions,and 17 beta-globin point mutations.Results Of the 408 individuals,304 were assigned to group A（normal controls）,26 to group B（iron deficiency）,56 to group C（β-thalassemia）,and 22 to group D（β-thalassemia combined with iron deficiency）.The results for the comparison of the mean HbA2 values among pairs of groups were as follows： group A vs group B,q=5.074 7,P0.05;group A vs group C,q=37.650 8,P0.05;group A vs group D,q=16.043 0,P0.05;group C vs group D,q=7.682 9,P0.05;Group B vs group D,q=15.806 6,P0.05.There were no significant correlation between SF and HbA2 in all 4 groups.Conclusions Iron deficiency decreased the HbA2 level in both controls and individuals with β-thalassemia.HbA2 levels decreased significantly in individuals with both β-thalassemia and iron deficiency as compared with β-thalassemia group alone.However,they remained significantly higher than both the control and iron-deficient groups.Therefore,the elevation of HbA2 could be used to diagnose β-thalassemia reliably even in the presence of iron deficiency.