Hafsia Raouf, Belakhal Fatma, Ben Salah Naouel, Gouider Emna, Elborgi Wijden
Departement d'Hematologie, Universite Tunis, El Manar, Tunisie.
Tunis Med. 2011 Jun;89(6):548-52.
Sickle cell disease is an autosomal, recessive hemoglobinopathy characterized by hemolytic anemia. Red blood cell transfusions are uncommon therapeutic mainstay in sickle cell disease and repeated transfusions can result in iron overload. The predicted risks of iron overload and organ failure increase with both the duration of disease requiring transfusion therapy and the number of transfusions.
To assess the state of iron overload in patients with sickle ce anemia according to their number of transfusions.
The medical records of 94 patients with sickle cell anemia (46 had homozygous sickle cell disease, 41 had sickle-ß thalassemia, 7 had compound heterozygous hemoglobin: 4 SC and 3 SOArab) were retrospectively reviewed for the following: clinical exam, serum ferritin level, liver function tests, abdominal ultrasound exam and heart Doppler.
61% of our patients are from the Northern- west of the country. The average age is 18.29 years (2 to 62 years) and the sexratio is 0.62. In addition to parental consanguinity which is found in 28.72% of the cases. The average level of ferritin is 660.35 ng/ml. 41.5% of the patients have a high status of ferritin witch ranged from 521.4 to 3360 ng/ml. There is not a significant difference of ferritin level according to age, sex and a phenotype of sickle cell anemia. However, it is higher among the transfused patients with a same phenotype (p<0.05). We found a correlation between serum ferritin levels and the number of transfusions (r =+0.74). Splenectomy has a preventive role because it allowed stopping the transfusion in 65% of the cases. The evaluation of organ dysfunction has found a hepatomegaly in 29% of the cases, half of witch were have a high status of serumferritin (> 1000 ng/ml). Left ventricular hypertrophy associated to valvulopathy was classified in 10 % of the cases.
Iron overload in sickle cell anemia, though relying on transfusion, remains moderate. The repetitive assessment of serum ferritin level is considered as the best test though it does not evaluate an organic dysfunction. To evaluate them better, other tests are requiring: magnetic resonance imaging and Tc-Squid biosusceptometers.
镰状细胞病是一种常染色体隐性血红蛋白病，其特征为溶血性贫血。红细胞输血是镰状细胞病中不常见的主要治疗方法，反复输血会导致铁过载。随着需要输血治疗的疾病持续时间和输血次数的增加，铁过载和器官衰竭的预测风险也会增加。
根据输血次数评估镰状细胞贫血患者的铁过载状况。
回顾性分析94例镰状细胞贫血患者（46例为纯合子镰状细胞病，41例为镰状-β地中海贫血，7例为复合杂合血红蛋白：4例SC和3例SOArab）的病历，包括临床检查、血清铁蛋白水平、肝功能检查、腹部超声检查和心脏多普勒检查。
61%的患者来自该国西北部。平均年龄为18.29岁（2至62岁），性别比为0.62。此外，28.72%的病例存在近亲结婚。铁蛋白平均水平为660.35 ng/ml。41.5%的患者铁蛋白水平较高，范围为521.4至3360 ng/ml。根据年龄、性别和镰状细胞贫血的表型，铁蛋白水平无显著差异。然而，在相同表型的输血患者中，铁蛋白水平更高（p<0.05）。我们发现血清铁蛋白水平与输血次数之间存在相关性（r = +0.74）。脾切除术具有预防作用，因为它使65%的病例停止了输血。器官功能障碍评估发现，29%的病例存在肝肿大，其中一半血清铁蛋白水平较高（>1000 ng/ml）。10%的病例出现与瓣膜病相关的左心室肥厚。
镰状细胞贫血中的铁过载虽然依赖输血，但仍处于中等水平。血清铁蛋白水平的重复评估被认为是最佳检测方法，尽管它不能评估器官功能障碍。为了更好地评估它们，还需要其他检测：磁共振成像和Tc-Squid生物磁强计。
