King M-J, Garçon L, Hoyer J D, Iolascon A, Picard V, Stewart G, Bianchi P, Lee S-H, Zanella A
Membrane Biochemistry, NHS Blood and Transplant, Bristol, UK.
Int J Lab Hematol. 2015 Jun;37(3):304-25. doi: 10.1111/ijlh.12335. Epub 2015 Mar 18.
Hereditary spherocytosis (HS), hereditary elliptocytosis (HE), and hereditary stomatocytosis (HSt) are inherited red cell disorders caused by defects in various membrane proteins. The heterogeneous clinical presentation, biochemical and genetic abnormalities in HS and HE have been well documented. The need to raise the awareness of HSt, albeit its much lower prevalence than HS, is due to the undesirable outcome of splenectomy in these patients.
The scope of this guideline is to identify the characteristic clinical features, the red cell parameters (including red cell morphology) for these red cell disorders associated, respectively, with defective cytoskeleton (HS and HE) and abnormal cation permeability in the lipid bilayer (HSt) of the red cell. The current screening tests for HS are described, and their limitations are highlighted.
An appropriate diagnosis can often be made when the screening test result(s) is reviewed together with the patient's clinical/family history, blood count results, reticulocyte count, red cell morphology, and chemistry results. SDS-polyacrylamide gel electrophoresis of erythrocyte membrane proteins, monovalent cation flux measurement, and molecular analysis of membrane protein genes are specialist tests for further investigation.
Specialist tests provide additional evidence in supporting the diagnosis and that will facilitate the management of the patient. In the case of a patient's clinical phenotype being more severe than the affected members within the immediate family, molecular testing of all family members is useful for confirming the diagnosis and allows an insight into the molecular basis of the abnormality such as a recessive mode of inheritance or a de novo mutation.
遗传性球形红细胞增多症（HS）、遗传性椭圆形红细胞增多症（HE）和遗传性口形红细胞增多症（HSt）是由各种膜蛋白缺陷引起的遗传性红细胞疾病。HS和HE的异质性临床表现、生化及基因异常已有充分记载。尽管HSt的患病率远低于HS，但仍有必要提高对其的认识，因为这些患者脾切除的不良后果。
本指南的范围是确定这些红细胞疾病的特征性临床特征、红细胞参数（包括红细胞形态），这些疾病分别与红细胞细胞骨架缺陷（HS和HE）以及红细胞脂质双层中阳离子通透性异常（HSt）相关。描述了目前HS的筛查试验，并强调了其局限性。
当将筛查试验结果与患者的临床/家族史、血细胞计数结果、网织红细胞计数、红细胞形态及生化结果综合考虑时，通常可做出恰当诊断。红细胞膜蛋白的十二烷基硫酸钠-聚丙烯酰胺凝胶电泳、单价阳离子通量测定及膜蛋白基因的分子分析是用于进一步检查的专业检测方法。
专业检测为支持诊断提供了额外证据，有助于患者的管理。如果患者的临床表型比直系亲属中受影响的成员更严重，对所有家庭成员进行分子检测有助于确诊，并能深入了解异常的分子基础，如隐性遗传模式或新发突变。
