PDF(Pubmed)
Abstract：
Hereditary spherocytosis (HS) is a hereditary hematologic disorder characterized by fragile spherical red blood cells that are susceptible to hemolysis. HS patients are often asymptomatic or present with anemia; however, serious complications of chronic hemolysis can include cholelithiasis and aplastic crisis. Splenectomy is considered the standard surgical treatment in moderate and severe forms of HS, with the main complication being a life-long risk of infection. Interestingly, our case suggests a possibility of secondary hemochromatosis as a complication of chronic hemolysis seen in HS. A vast majority of hemochromatosis patients possess a genetic predisposition, which increases their serum iron level and iron storage within the reticuloendothelial system. However, we present a case in which the genetic panel for common mutations associated with hemochromatosis resulted as negative. This case emphasizes the need for increased awareness regarding the potential development of idiopathic hemochromatosis in patients with long-standing HS, allowing for prompt intervention and preventing the associated complications.
摘要：
遗传性球形红细胞增多症（HS）是一种遗传性血液病，其特征是脆弱的球形红细胞易于溶血。HS患者通常无症状或存在贫血；然而，慢性溶血的严重并发症可包括胆石症和再生障碍性危象。脾切除术被认为是中度和重度HS的标准手术治疗。主要并发症是终身感染的风险。有趣的是,我们的病例提示继发性血色素沉着可能是HS患者慢性溶血的并发症.绝大多数血色素沉着病患者具有遗传易感性，这增加了他们的血清铁水平和网状内皮系统内的铁储存。然而,我们介绍了一个病例,其中与血色素沉着病相关的常见突变的遗传组结果为阴性.该病例强调需要提高对长期HS患者特发性血色素沉着症的潜在发展的认识。允许及时干预和预防相关并发症。
