[原因不明的复发性溶血和铁超载]。

Laura Distelmaier, Christian Gebhard, Antje Holzäpfel, Michael von Bergwelt-Baildon, Sebastian Theurich, Holger Cario, Karsten Spiekermann
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引用次数: 0

摘要

本病例是一名 33 岁的男性,自幼反复出现黄疸和溶血,长期以来被误认为是吉尔伯特病。随后,患者还出现了脾肿大和胆结石,并伴有铁超载。基因检测显示,患者被诊断为遗传性红细胞增多症,这是一种导致反复溶血的红细胞膜疾病。由于显微鉴别血细胞计数通常没有典型的发现,而且用于诊断其他红细胞膜疾病的 Eosin-5 马来酰亚胺染料(EMA)试验也正常,因此红细胞增多症的诊断往往具有挑战性,而且该病的发病率可能被低估。如果出现脾脏肿大、铁超载和反复溶血,或临床诊断为吉尔伯特病并伴有上述症状之一,则应考虑进行进一步检查,也可能进行基因检测。
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[Recurrent hemolysis and iron overload of unclear origin].

The case of a 33-year-old male with recurrent icterus and hemolysis since childhood that was long mistaken for Gilbert disease is presented. Subsequently, the patient also developed splenomegaly and gallstones together with iron overload. Genetic testing revealed the diagnosis of hereditary xerocytosis, which is an erythrocyte membrane disorder causing recurrent hemolysis. Xerocytosis is often challenging to diagnose and the frequency of the condition might be underestimated as there are often no typical findings in the microscopic differential blood count, and Eosin-5-maleimide dye (EMA) test, which is used to diagnose other erythrocyte membrane disorders, is normal. In cases of splenomegaly, iron overload and recurrent hemolysis, or in the case of a clinical diagnosis of Gilbert disease together with one of the above-mentioned symptoms, further investigations and possibly also genetic testing should be considered.

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