小结
定义
遗传性球形细胞增多症 (hereditary spherocytosis, HS) 是一种由结构膜蛋白缺陷引起的红细胞遗传性异常。这种疾病在 75% 的人群中呈显性遗传。疾病的严重程度与膜破裂的类型和数量有关，由遗传决定。异常细胞是球形的。它们被脾脏移除，导致红细胞寿命缩短，与正常的 120 天相比，有不同程度的偏移。在严重的情况下，红细胞寿命可能只有 10 天。不同个体间溶血的严重性各不相同，可因感染恶化。HS 与脾肿大（通常）、贫血伴网织红细胞计数增加（具体情况存在差异）和黄疸（偶尔）有关。
[Figure caption and citation for the preceding image starts]: HS 患者的血涂片；箭头指示球形红细胞由德克萨斯大学西南医学中心 (University of Texas Southwestern Medical Center) Shelley Crary 提供；获准后使用 [Citation ends].
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Associate Professor of Pediatrics
University of Arkansas for Medical Sciences
Little Rock
AR
利益冲突披露
SC is on an advisory board for HEMA Biologics for a hemophilia product (unrelated to this article).Dr Shelley Crary would like to gratefully acknowledge Dr Paula Bolton-Maggs, a previous contributor to this topic. PB-M has received travel and accommodation payments to give a series of lectures on paediatric haematology, one of which was on HS. She also was an expert witness in a legal case concerning a child with HS. PB-M is an author of some references cited in this topic.
Professor of Medicine Emeritus
School of Medicine and Public Health
University of Wisconsin-Madison
Madison
WI
利益冲突披露
RS is an author of a number of references cited in this monograph.使用此内容应接受我们的免责声明。
