Red blood cell membrane defects.
Red blood cell membrane defects.
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红细胞膜缺陷。
DOI：
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发表时间：
2003
期刊：
影响因子：
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通讯作者：
G. Stewart
中科院分区：
文献类型：
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作者：
A. Iolascon;S. Perrotta;G. Stewart
我们概述了目前已知的红细胞膜疾病的分子基础。报告了红细胞膜的结构及其疾病的病理生理学和临床方面的详细讨论。一般来说，遗传性球形红细胞增多症 (HS) 是由于红细胞表面积减少所致。大多数 HS 病例的突变位于以下基因：ANK1、SPTB、SLC4A1、EPB42 和 SPTA1，分别编码锚蛋白、血影蛋白 β 链、阴离子交换器 1（带 3）、蛋白 4.2 和血影蛋白 α 链。遗传性椭圆形红细胞增多症（HE）反映了骨骼弹性的减弱。其加重形式是遗传性焦磷酸细胞增多症 (HPP)，意味着骨骼会进一步不稳定。导致 HE 和 HPP 的突变位于 SPTA1 和 SPTB 基因以及编码蛋白 4.1 的 EPB41 基因中。等位基因 α LELY 是一种常见的多态性等位基因，当它出现在 SPTA1 基因的椭圆形细胞生成等位基因的反式中时，会起到加重因素的作用。东南亚卵形细胞增多症源自带 3 的变化。单价阳离子膜通透性的遗传性疾病需要定位克隆方法。在这方面，通道病代表了该领域的新前沿。脱水遗传性口细胞增多症（DHS）被证明属于多效性综合征：DHS + 胎儿水肿 + 假性高钾血症，定位于 16q23-24。脾切除术在 DHS 和另一种同类疾病（过度水合遗传性口细胞增多症）中是严格禁忌的，因为它会增加血栓栓塞事故的风险。
We present an overview of the currently known molecular basis of red cell membrane disorders. A detailed discussion of the structure of the red cell membrane and the pathophysiology and clinical aspects of its disorders is reported. Generally speaking, hereditary spherocytosis (HS) results from a loss of erythrocyte surface area. The mutations of most cases of HS are located in the following genes: ANK1, SPTB, SLC4A1, EPB42 and SPTA1, which encode for ankyrin, spectrin beta-chain, the anion exchanger 1 (band 3), protein 4.2 and spectrin alpha-chain, respectively. Hereditary elliptocytosis (HE) reflects a diminished elasticity of the skeleton. Its aggravated form, hereditary pyropoikilocytosis (HPP), implies that the skeleton undergoes further destabilization. The mutations responsible for HE and HPP, lie in the SPTA1 and SPTB gene, and in the EPB41 gene encoding protein 4.1. Allele alpha LELY is a common polymorphic allele, which plays the role of an aggravating factor when it occurs in trans of an elliptocytogenic allele of the SPTA1 gene. Southeast Asian ovalocytosis derives from a change in band 3. The genetic disorders of membrane permeability to monovalent cations required a positional cloning approach. In this respect, channelopathies represent a new frontier in the field. Dehydrated hereditary stomatocytosis (DHS) was shown to belong to a pleiotropic syndrome: DHS + fetal edema + pseudohyperkalemia, which maps 16q23-24. Splenectomy is strictly contraindicated in DHS and another disease of the same class, overhydrated hereditary stomatocytosis, because it increases the risk of thromboembolic accidents.