Bronspiegel-Weintrob N, Olivieri N F, Tyler B, Andrews D F, Freedman M H, Holland F J
Division of Endocrinology, Hospital for Sick Children, Toronto, Canada.
N Engl J Med. 1990 Sep 13;323(11):713-9. doi: 10.1056/NEJM199009133231104.
Patients with transfusion-dependent thalassemia major tend to have abnormal growth and sexual maturation at puberty, presumably as a result of pituitary iron overload. This study was designed to determine whether chelation therapy with deferoxamine before the age of puberty would ameliorate this problem.
We examined 40 patients over 14 years of age with transfusion-dependent thalassemia major. The 19 patients in group A (mean [+/- SD] age at study, 17.0 +/- 1.5 years) had begun nightly treatment with subcutaneous deferoxamine before the age of 10 (mean age at start of treatment, 7.5 +/- 1.8 years). The 21 patients in group B (mean age, 24.1 +/- 3.8 years) had begun treatment after the age of 10 (mean age at start of treatment, 14.4 +/- 4.7 years).
The abnormal findings were essentially confined to sexual development. The final height did not differ between groups or from the mean parental height in each group. Ninety percent of the patients in group A had normal sexual development, as compared with 38 percent of those in group B (P = 0.001). Outcomes were correlated with indexes of iron overload; the patients in group A had lower serum ferritin levels before chelation treatment (P = 0.01) and lower average serum ferritin levels during treatment (P = 0.005).
Beginning chelation treatment with deferoxamine before the age of puberty can help children with transfusion-dependent thalassemia major to attain normal sexual maturation.
重度依赖输血的地中海贫血患者在青春期往往生长异常且性成熟延迟，推测是垂体铁过载所致。本研究旨在确定青春期前使用去铁胺进行螯合治疗是否能改善这一问题。
我们检查了40例14岁以上的重度依赖输血的地中海贫血患者。A组19例患者（研究时平均年龄[±标准差]为17.0±1.5岁）在10岁前开始每晚皮下注射去铁胺治疗（开始治疗时的平均年龄为7.5±1.8岁）。B组21例患者（平均年龄为24.1±3.8岁）在10岁后开始治疗（开始治疗时的平均年龄为14.4±4.7岁）。
异常表现主要局限于性发育方面。两组的最终身高无差异，且与每组父母的平均身高也无差异。A组90%的患者性发育正常，而B组为38%（P = 0.001）。结果与铁过载指标相关；A组患者在螯合治疗前血清铁蛋白水平较低（P = 0.01），治疗期间平均血清铁蛋白水平也较低（P = 0.005）。
青春期前开始使用去铁胺进行螯合治疗可帮助重度依赖输血的地中海贫血患儿实现正常的性成熟。
