Hamill R L, Woods J C, Cook B A
Department of Pathology, Tripler Army Medical Center, Honolulu, Hawaii 96859-5000.
Am J Clin Pathol. 1991 Aug;96(2):215-8. doi: 10.1093/ajcp/96.2.215.
A four-year-old Polynesian girl with a two-year history of severe microcytic, hypochromic anemia (which was refractory to iron therapy) had a decreased beta-globulin fraction on serum protein electrophoresis, resulting from the absence of the transferrin (TRF) band. Subsequent assays for TRF showed a level below the detectable range. Liver biopsy revealed significant deposition of hemosiderin within hepatocytes and Kupffer cells, in addition to early fibrosis. Two bone marrow aspirates were hypercellular, with decreased myeloid-erythroid ratios. This case represents the eighth reported example of congenital atransferrinemia, a rare, apparently autosomal recessive disease.
一名4岁的波利尼西亚女孩，患有严重的小细胞低色素性贫血，病程两年（铁剂治疗无效），血清蛋白电泳显示β球蛋白组分降低，原因是转铁蛋白（TRF）条带缺失。随后的TRF检测显示其水平低于可检测范围。肝活检显示，除早期纤维化外，肝细胞和库普弗细胞内有大量含铁血黄素沉积。两次骨髓穿刺显示细胞过多，髓红比例降低。该病例是先天性无转铁蛋白血症的第八个报道病例，这是一种罕见的、明显为常染色体隐性遗传的疾病。
