Red blood cell abnormalities in hereditary elliptocytosis and their relevance to variable clinical expression.
Red blood cell abnormalities in hereditary elliptocytosis and their relevance to variable clinical expression.
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DOI：
10.1093/ajcp/108.4.391
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发表时间：
1997-10
影响因子：
3.5
通讯作者：
Paolo Silveira;T. Cynober;D. Dhermy;N. Mohandas;G. Tchernia
中科院分区：
文献类型：
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作者：
Paolo Silveira;T. Cynober;D. Dhermy;N. Mohandas;G. Tchernia
遗传性椭圆形红细胞增多症 (HE) 的临床表现存在明显差异。为了定义最能反映疾病表达差异的细胞改变，我们评估了一系列 18 名 HE 患者、来自 6 个家庭的 15 名因血影蛋白缺陷而患有 HE 的人，以及来自一个家庭的 3 名因蛋白质 4.1 部分或完全缺乏而导致 HE 的人的红细胞病理生物学特征。我们发现，细胞变形能力降低是所有研究患者红细胞的一个显着特征。红细胞和网织红细胞的体积和血红蛋白含量直方图的比较表明，细胞破碎是成熟红细胞的一个特征。小红细胞百分比增加所反映的红细胞破碎程度是溶血性贫血严重程度的最佳指标。此外，我们发现不同人的 HE 红细胞的细胞特性存在差异，这是组装到膜中的突变蛋白数量不同的结果。这些发现使我们能够更好地定义这种红细胞膜疾病的细胞变化的机制基础，并深入了解可变临床表达的细胞基础。
Marked variations are seen in the clinical manifestations of hereditary elliptocytosis (HE). To define the cellular alteration(s) that best reflect the variable expression of the disease, we evaluated the pathobiologic features of red blood cells in a series of 18 patients with HE, 15 persons from six families with HE as a result of defects in spectrin, and 3 persons from one family with HE caused by partial or total deficiency of protein 4.1. We found that decreased cellular deformability is a distinguishing feature of red blood cells in all patients studied. Comparison of volume and hemoglobin content histograms of red blood cells and reticulocytes revealed that cell fragmentation is a feature of mature red blood cells. The extent of red blood cell fragmentation as reflected by increased percentage of microcytic red blood cells was the best indicator of the severity of hemolytic anemia. Furthermore, we found that the observed variations in cellular properties of HE red blood cells in different persons is the consequence of varying amounts of mutant protein assembled into the membrane. These findings enabled us to define the mechanistic basis for cellular changes in this red blood cell membrane disorder better and also to obtain insight into the cellular basis for variable clinical expression.