不同基因型地中海贫血患儿血清铁代谢指标的研究

目的：探讨血清铁(SI)、总铁结合力(TIBC)、转铁蛋白(Tf)的检测在地中海贫血（地贫）中的临床应用价值。方法：对选取的9例静止型α地贫，56例标准型α地贫，26例血红蛋白H病，40例β地贫杂合子（β+地贫），56例β地贫双重杂合子(或纯合子) （β0地贫），45例缺铁性贫血（IDA）患儿以及70例健康儿童（对照组）血清SI、TIBC、Tf进行检测。结果：β0地贫组SI水平明显高于其余各组（P0.05）；静止型α地贫、标准型α地贫组SI、TIBC水平与对照组相近（P>0.05），但Tf水平明显低于对照组（P0.05）。结论：SI和TIBC用于监测地贫患儿的铁负荷优于Tf。对于SI异常增高和TIBC明显降低的的小细胞性贫血患儿，诊断为β0地贫的可能性大。［中国当代儿科杂志，2010，12（2）：85-88］

Changes of iron metabolism indices in children with various genotypes of thalassema

Objective To study the value of iron metabolism indices, serum iron(SI), total iron blinding capacity (TIBC) and transferring(Tf), in thalassema. Methods The serum samples from 9 children with silent α thalassema, 56 with standard α thalassema, 26 with HbH disease, 40 with β~+ thalassema, 56 with β~0 thalassema, 45 with iron deficiency anemia(IDA) and 70 healthy children were detected for SI, TIBC and Tf levels. Results The SI level increased (P<0.01), while the TIBC level decreased significantly in the 130 thalassema group compared with thee in the other groups(P <0.05 or 0.01 ), but the Tf level was not different. The Tf level of both the silent α thalassema and the standard α thalassema groups was statistically lower than that of the healthy group( P <0.01 ), but the levels of SI and TIBC were similar to the healthy group. Though the SI level of the HbH disease group was similar to the healthy group, the TIBC and Tf levels were statistically lower(P < 0. 01 ). Conclusions Compared with Tf, SI and TIBC are better indices for monitoring iron loading in children with thalassema. The increased SI level and decreased TIBC level are two indices for the diagnosis of β~0 thalassema in children with cellule anaemia.