妊娠合并遗传性球形红细胞增多症1例并文献复习

Pregnancy Complicated with Hereditary Spherocytosis: A Case Report and Literature Analysis

摘要: 遗传性球形红细胞增多症(Hereditary spherocytosis, HS)是以反复发生的血管外溶血性贫血、间歇性黄疸和脾大为主要临床表现的血液系统疾病，是最常见的遗传性红细胞膜缺陷性疾病。目前认为其发病机制为红细胞膜骨架蛋白基因突变，导致红细胞网状结构的竖向结构发现变化，导致红细胞变为球形。因其临床表现轻重不一，症状不典型，常规实验室检查不易发现，常常导致误诊、漏诊。妊娠合并遗传性球形红细胞增多症的病例报道较少，本文报道1例遗传性球形红细胞增多症的孕妇，结合文献进行分析，为临床上妊娠合并遗传性球形红细胞增多症的患者诊疗提供了临床依据。

Abstract: Hereditary spherocytosis, a hematologic disorder characterized by recurrent extravascular hemo-lytic anemia, intermittent jaundice, and splenomegaly as the main clinical manifestations, is the most common inherited RBC membrane defect. At present, it is believed that the pathogenesis of RBCs is caused by mutations in the gene for the membrane skeleton protein of RBCs, which leads to the finding of changes in the vertical structure of the RBC’s reticulum, resulting in RBCs becoming spherical. Due to its clinical manifestations, which are of varying severity, symptoms are atypical, routine laboratory tests are not easy to detect, and often lead to misdiagnosis and missed diagnosis. There are few cases of pregnancies complicated by hereditary spherocytosis, and in this paper, we report a case of pregnant woman with hereditary spherocytosis, combined with an analysis of the literature, to provide a clinical basis for the management of patients with pregnancies complicated by hereditary spherocytosis.