New York Blood Center, New York, NY.
Hematology Am Soc Hematol Educ Program. 2018 Nov 30;2018(1):377-381. doi: 10.1182/asheducation-2018.1.377.
Significant advances have been made in diagnosis and clinical management of inherited red cell membrane disorders that result in hemolytic anemia. Membrane structural defects lead to hereditary spherocytosis (HS) and hereditary elliptocytosis (HE), whereas altered membrane transport function accounts for hereditary xerocytosis (HX) and hereditary overhydrated stomatocytosis (OHS). The degrees of membrane loss and resultant increases in cell sphericity determine the severity of anemia in HS and HE, and splenectomy leads to amelioration of anemia by increasing the circulatory red cell life span. Alterations in cell volume as a result of disordered membrane cation permeability account for reduced life span red cells in HX and OHS. Importantly, splenectomy is not beneficial in these 2 membrane transport disorders and is not recommended because it is ineffective and may lead to an increased risk of life-threatening thrombosis. Rational approaches are now available for the diagnosis and management of these inherited red cell disorders, and these will be discussed in this review.
在遗传性红细胞膜疾病的诊断和临床管理方面取得了重大进展,这些疾病导致溶血性贫血。膜结构缺陷导致遗传性球形红细胞增多症(HS)和遗传性椭圆形红细胞增多症(HE),而改变的膜转运功能导致遗传性非球形细胞性红细胞增多症(HX)和遗传性过度水合性口形红细胞增多症(OHS)。膜丢失的程度和细胞球形度的增加决定了 HS 和 HE 中贫血的严重程度,脾切除术通过增加循环红细胞寿命来改善贫血。由于膜阳离子通透性紊乱导致的细胞体积改变导致 HX 和 OHS 中红细胞寿命缩短。重要的是,脾切除术在这两种膜转运障碍中没有益处,不建议使用,因为它无效,并且可能导致危及生命的血栓形成的风险增加。目前可用于这些遗传性红细胞疾病的诊断和管理,本综述将讨论这些方法。