Vichinsky Elliott, Butensky Ellen, Fung Ellen, Hudes Mark, Theil Elizabeth, Ferrell Linda, Williams Roger, Louie Leslie, Lee Phillip D K, Harmatz Paul
Department of Hematology/Oncology, Children's Hospital & Research Center at Oakland, CA 94609, USA.
Am J Hematol. 2005 Sep;80(1):70-4. doi: 10.1002/ajh.20402.
Although it is life saving, transfusion therapy has resulted in the majority of sickle cell anemia and thalassemia patients being at risk for hemosiderosis-induced organ damage. It is unknown whether the complications of iron overload are affected by the underlying disease. In order to address this problem, we compared the prevalence of organ dysfunction in both groups of patients receiving chronic transfusion therapy (beta thalassemia, N = 30; sickle cell anemia, N = 43). Both groups had similar quantitative liver iron. Thalassemia patients had greater cardiac disease (20% vs. 0%), growth failure (27% vs. 9%), and endocrine failure (37% vs. 0%). The strongest predictors of combined endocrine and cardiac disease in multivariate analysis were duration of chronic transfusion (P = 0.03) and diagnosis (P = 0.03). Quantitative liver iron concentration on a single liver biopsy was not predictive of cardiac or endocrine injury. Viral hepatitis is the strongest predictor of hepatocellular damage (P = 0.009), while the development of liver fibrosis is more closely related to liver iron concentration (P = 0.04). In conclusion, sickle cell anemia and thalassemia differ in the prevalence of organ injury. This difference is related to the duration of iron exposure and the specific hemoglobinopathy. A prospective study with a larger number of subjects is needed to confirm the relationships between specific diagnosis, liver iron concentration over time, and organ dysfunction.
尽管输血疗法挽救了生命，但大多数镰状细胞贫血和地中海贫血患者仍面临铁过载导致器官损伤的风险。铁过载的并发症是否受潜在疾病影响尚不清楚。为了解决这个问题，我们比较了两组接受慢性输血治疗的患者（β地中海贫血，N = 30；镰状细胞贫血，N = 43）的器官功能障碍患病率。两组的肝脏铁定量相似。地中海贫血患者的心脏疾病（20%对0%）、生长发育迟缓（27%对9%）和内分泌功能衰竭（37%对0%）更为常见。多变量分析中，内分泌和心脏疾病合并症的最强预测因素是慢性输血持续时间（P = 0.03）和诊断（P = 0.03）。单次肝脏活检的肝脏铁定量浓度不能预测心脏或内分泌损伤。病毒性肝炎是肝细胞损伤的最强预测因素（P = 0.009），而肝纤维化的发生与肝脏铁浓度关系更为密切（P = 0.04）。总之，镰状细胞贫血和地中海贫血在器官损伤患病率方面存在差异。这种差异与铁暴露持续时间和特定血红蛋白病有关。需要进行一项有更多受试者的前瞻性研究来证实特定诊断、肝脏铁浓度随时间的变化以及器官功能障碍之间的关系。
