Demosthenous C, Rizos G, Vlachaki E, Tzatzagou G, Gavra M
1 Department of Internal Medicine, Papageorgiou General Hospital, Thessaloniki, Greece.
Department of Hematology and HCT Unit, George Papanicolaou General Hospital, Thessaloniki, Greece.
Hippokratia. 2017 Jan-Mar;21(1):43-45.
Hemosiderosis in the absence of blood transfusions has been encountered in conditions associated with ineffective erythropoiesis but not in sickle-cell disease (SCD). Description of the case: We report a case of a 34-year-old Caucasian male, with a history of SCD and beta thalassemia (Hb S/β-thal) who presented with acute painful crises. Despite never having received regular blood transfusions in the past, the patient demonstrated elevated ferritin levels and transferrin saturation of 83 %. Further evaluation revealed diffuse hepatocellular dysfunction and cirrhosis.
To the best of our knowledge, this is the first patient with Hb S/β-thal without a prior history of chronic blood transfusions or other predisposing factors for liver disease who developed hemosiderosis and cirrhosis. The pathomechanism, in this case, is thought to be related to increased duodenal iron uptake secondary to premature red cell precursor death. Further studies are required to characterize ineffective intramedullary erythropoiesis and iron metabolism better, and to improve the existing management guidelines of iron overload. The data reported herein suggest that patients with hemoglobinotpathies should be screened for iron overload regardless of transfusion history. HIPPOKRATIA 2017, 21(1): 43-45.
在与无效红细胞生成相关的疾病中曾遇到过未输血情况下的含铁血黄素沉着症，但在镰状细胞病（SCD）中未见报道。病例描述：我们报告一例34岁的白种男性，有SCD和β地中海贫血（Hb S/β-地贫）病史，因急性疼痛危象就诊。尽管该患者过去从未接受过定期输血，但铁蛋白水平升高，转铁蛋白饱和度达83%。进一步评估发现弥漫性肝细胞功能障碍和肝硬化。
据我们所知，这是首例既往无慢性输血史或其他肝病易感因素的Hb S/β-地贫患者发生含铁血黄素沉着症和肝硬化。该病例的发病机制被认为与早幼红细胞前体死亡继发十二指肠铁吸收增加有关。需要进一步研究以更好地描述无效的骨髓内红细胞生成和铁代谢，并改进现有的铁过载管理指南。本文报道的数据表明，无论输血史如何，血红蛋白病患者均应筛查铁过载。《希波克拉底》2017年，21(1): 43 - 45。
