不同基因型地中海贫血患儿铁代谢和红细胞系造血状况研究

Status of iron metabolism and erythropoietic proliferation in children with various genotypes of thalassemia

摘要:

目的：探讨不同基因型地中海贫血（地贫）患儿体内铁代谢和红细胞系造血状况。方法：对158例确诊地贫患儿进行血清铁蛋白（SF）、血清转铁蛋白受体（sTfR）、促红细胞生成素（EPO）检测，比较不同基因型地贫患儿之间的差异，并分析其与血红蛋白水平的相关性。结果：158例地贫患儿中，轻型α地贫52例（32.9％），血红蛋白H病（HbH病）27例（17.1％），轻型β地贫59例（37.4％），重型β地贫13例（8.2％），α复合β地贫7例（4.4％）。HbH病及重型β地贫患儿的SF水平较其他各组明显升高，差异有统计学意义（P＜0.01）；重型β地贫患儿sTfR水平较其他各组升高，差异有统计学意义（P<0.05）。重型β地贫患儿EPO水平较其他各组明显升高，差异有统计学意义（P＜0.01）；HbH病和重型β地贫患儿Hb水平和EPO水平呈负相关，分别为γ=-0.656（P＜0.01）和γ=-0.641（P＜0.05）。结论：不同基因型地贫患儿体内铁代谢和红细胞系造血状况不同，联合SF、sTfR和EPO检测可反映造血状况，指导临床治疗。［中国当代儿科杂志，2010，12（8）：602-604］

Abstract:

OBJECTIVE: To study the status of iron metabolism and erythropoietic proliferation in children with various genotypes of thalassemia. METHODS: Serum concentrations of ferritin (SF), transferrin receptor (sTfR) and erythropoietin (EPO) were measured in 158 children with thalassemia. The differences in the concentrations of the three indices among children with different genotypes of thalassemia were compared. The correlations of the hemoglobin level with sereum SF, sTfR and EPO levels were assessed. RESULTS: Among the 158 children with thalassemia, 52(32.9%) were diagnosed with alpha-thalassemia minor, 27(17.1%) with HbH disease, 59(37.4%) with beta-thalassemia minor, 13(8.2%) with beta-thalassemia major, and 7(4.4%) with combining alpha beta thalassemia. The SF levels in children with HbH disease or beta-thalassemia major were significantly higher than those in the other thalassemia groups (P<0.01). The sTfR levels in children with beta-thalassemia major were the highest when compared with those in the other thalassemia groups (P<0.05). The EPO levels in children with beta-thalassemia major were also the highest when compared with those in the other thalassemia groups (P<0.01). There was a negative correlation between hemoglobin and EPO levels in children with HbH disease (r=-0.656, P<0.01) and beta-thalassemia major (r=-0.641; P<0.05). CONCLUSIONS: The status of iron metabolism and erythropoietic proliferation is different in children with different genotypes of thalassemia. A combined measurement of SF, sTfR and EPO may reflect the status of erythropoietic proliferation.［Chin J Contemp Pediatr, 2010, 12 (8):602-604］