Miraglia del Giudice E, Perrotta S, Nobili B, Pinto L, Cutillo L, Iolascon A
Paediatric Department, University of Naples, Italy.
Br J Haematol. 1993 Nov;85(3):553-7. doi: 10.1111/j.1365-2141.1993.tb03347.x.
A kindred with hereditary spherocytosis and beta-thalassaemia trait was identified. Detailed studies of the red cell membrane proteins on polyacrylamide gels with sodium dodecyl sulphate (SDS-PAGE) demonstrated the presence of band 3 (anion transporter) deficiency in all HS subjects (20-25% reduction) whereas spectrin content was in the normal range. The molecular defect of beta thalassaemia in this kindred was due to a beta(0) codon 39 (C-T) mutation, as assessed by beta globin gene amplification and ASO-probe hybridization. Seven subjects of this family were studied: two were normal, two had HS alone, two co-inherited HS and beta-thalassaemia trait, and one had beta-thalassaemia trait only. The two subjects with HS alone had a typical clinical form of spherocytosis with anaemia, reticulocytosis and increased red cell osmotic fragility. The two with both HS and beta-thalassaemia trait were not anaemic and showed a small, well-compensated haemolysis. Hence the finding of red cells with abnormalities of both HS and beta-thalassaemia indicates that beta-thalassaemic trait 'silences' HS caused by band 3 deficiency.
发现了一个患有遗传性球形红细胞增多症和β地中海贫血特征的家族。通过十二烷基硫酸钠聚丙烯酰胺凝胶电泳（SDS-PAGE）对红细胞膜蛋白进行的详细研究表明，所有遗传性球形红细胞增多症患者均存在带3（阴离子转运蛋白）缺陷（降低20%-25%），而血影蛋白含量在正常范围内。通过β珠蛋白基因扩增和等位基因特异性寡核苷酸探针杂交评估，该家族中β地中海贫血的分子缺陷是由于β(0)密码子39（C-T）突变所致。对该家族的7名成员进行了研究：2名正常，2名仅患有遗传性球形红细胞增多症，2名同时遗传了遗传性球形红细胞增多症和β地中海贫血特征，1名仅具有β地中海贫血特征。仅患有遗传性球形红细胞增多症的2名患者具有典型的球形红细胞增多症临床症状，伴有贫血、网织红细胞增多和红细胞渗透脆性增加。同时患有遗传性球形红细胞增多症和β地中海贫血特征的2名患者没有贫血，表现为轻度的、代偿良好的溶血。因此，发现同时具有遗传性球形红细胞增多症和β地中海贫血异常的红细胞表明，β地中海贫血特征使由带3缺陷引起的遗传性球形红细胞增多症“沉默”。
