重型β-地中海贫血患儿生长发育异常及其与铁超负荷的关系

Relationship between growth disorders and iron overload in children with beta-thalassemia major

目的探讨重型β-地中海贫血患儿生长发育状态及其与铁超负荷的关系。方法于2007年7～8月对50例长期在该院儿科定期输血的重型β-地中海贫血患儿进行身高、体重和性发育评价,并与1995年中国0～18岁儿童体重、身高百分位数参考值比较,同时检测输血前血常规、肝功能和血清铁蛋白水平。结果24例(48%)重型β-地中海贫血患儿表现身材矮小,其中15例同时伴体重低下。≥10岁者21例,仅7例出现自发性青春期发育,TannerII～III期;≥14岁者8例,其中4例尚无性征发育。身高低于第10百分位者(n=31)与身高高于第10百分位者(n=19)分组比较,前者血清铁蛋白水平显著增高(8239.2±5865.5vs5028.1±3885.7mg/L,P<0.05),输血前Hb水平显著降低(68.2±12.3vs79.7±14.5g/L,P<0.05),肝脏显著增大(P<0.05)。而体重低于第10百分位者(n=20)与体重高于第10百分位者(n=30)分组比较,前者仅血清铁蛋白水平差异具有显著意义(9165.5±6042.5vs5567.3±4447.3mg/L,P<0.05)。结论接受中等量输血和不正规除铁治疗的重型β-地中海贫血患儿常伴有身材矮小、体重低下和性发育迟缓,其生长发育异常与体内铁严重超负荷有关。

Objective To study the status of growth and development and the relationship between growth disorders and iron overload in children with beta-thalassemia major. Methods Fifty children with beta-thalassemia major and who received blood transfusion therapy regularly （age： 9 months-17 years） were enrolled. They were subjected to a thorough history taking, clinical examinations, and laboratory examinations, including complete blood count, alanine transferasa （ALT） and serum ferritin. The physical growth parameters, such as height and weight, were compared with the reference values of Chinese children. Results Twenty-four patients （48%） were of short stature with height under the 3th percentile. Among them, 15 cases presented with their height and weight both under the 3th percentile. Spontaneous sex development was seen in 7 cases out of 21 over 10-year-old patients. No sex development was found in 4 out of 8 patients who were over 14 years old. The patients with a height under the 10th percentile （n = 31 ） had higher serum ferritin levels （8 239.2 ±5 865.5 mg/L vs 5 028.1 ±3 885.7 mg/L; P 〈0.05） and lower hemoglobin levels （68.2 ± 12.3 g/L vs 79.7 ± 14.5 g/L; P 〈 0.05 ） as well as hepatomegaly when compared with those patients with a height over the 10th percentile （n = 19）. Serum ferritin levels in 20 patients with a weight under the lOth percentile were significantly higher than those in 30 patients with a height over the 10th percentile （9 165.5 ±6 042.5 mg/L vs 5 567.3 ±4 447.3 mg,/L; P 〈0.05）. Conclusions Short stature, low weight and sex development delay are common in children with betathalassemia major. This may be related to iron overload.