Ideguchi H
3rd Department of Internal Medicine, Kyushu University, Fukuoka.
Rinsho Byori. 1990 Apr;38(4):360-4.
Hereditary spherocytosis (HS) is the most common hemolytic anemia caused by intrinsic defects of the erythrocyte membrane. Recent investigations have been directed toward the cytoskeleton of affected cells, and in some patients, the following several molecular lesions have been identified: (1) an abnormal spectrin incapable of binding to band 4.1 in dominantly inherited HS, (2) a deficiency of spectrin in severe, recessively inherited HS, (3) a deficiency of ankyrin and spectrin in severe, atypical HS, and (4) complete or partial defect of band 4.2 in some Japanese cases with HS. However, in the majority of patients with HS, the molecular lesion still remains unclear. We determined the transport rate of phosphoenolpyruvate (PEP) in HS erythrocytes, which was found to be specifically lower by almost half of the rate in erythrocytes from normal subjects or patients with other anemias. Since PEP is transported via band 3, the phenomenon may be a reflection of either structural abnormality of band 3 or dysfunction of band 3 caused by other primary lesions. Further investigations is needed to elucidate the underlying molecular defects in majority of patients with HS.
遗传性球形红细胞增多症(HS)是由红细胞膜内在缺陷引起的最常见的溶血性贫血。最近的研究集中在受影响细胞的细胞骨架上,在一些患者中,已发现以下几种分子病变:(1)在显性遗传的HS中,一种异常的血影蛋白无法与4.1带结合;(2)在严重的隐性遗传的HS中,血影蛋白缺乏;(3)在严重的非典型HS中,锚蛋白和血影蛋白缺乏;(4)在一些日本HS病例中,4.2带完全或部分缺陷。然而,在大多数HS患者中,分子病变仍不清楚。我们测定了HS红细胞中磷酸烯醇丙酮酸(PEP)的转运速率,发现其比正常受试者或其他贫血患者红细胞中的转运速率低近一半。由于PEP是通过3带转运的,这种现象可能反映了3带的结构异常或由其他原发性病变引起的3带功能障碍。需要进一步研究以阐明大多数HS患者潜在的分子缺陷。