Rana S R, Colman N, Goh K O, Herbert V, Klemperer M R
Am J Hematol. 1983 Feb;14(1):89-96. doi: 10.1002/ajh.2830140111.
A female infant presented at seven weeks of age with failure to thrive, progressively severe pancytopenia, hypogammaglobulinemia and, mucosal ulceration. Bone marrow morphology showed severed megaloblastic changes in the myeloid series with a shift to the left and an increased number of blasts with abnormal morphology. Erythroid precursors and megakaryocytes were markedly decreased. Cytogenetic studies showed marked aneuploidy and increased chromosomal breakage. Treatment with high doses of vitamin B12 resulted in a dramatic clinical response with hematological values becoming normal. The patient's serum showed absence of transcobalamin II, and very little TC I and TC III binding. The patient's parents had only half the lower limits of normal transcobalamin II. QUSO G-32 was used for separation of transcobalamins, and the results were confirmed by Sephacryl S-300. This case illustrates the usefulness of QUSO in the rapid diagnosis of transcobalamin II deficiency.
一名女婴在7周龄时出现生长发育迟缓、进行性严重全血细胞减少、低丙种球蛋白血症和黏膜溃疡。骨髓形态学显示髓系出现严重的巨幼样变，伴有核左移和形态异常的原始细胞数量增加。红系前体细胞和巨核细胞明显减少。细胞遗传学研究显示明显的非整倍体和染色体断裂增加。高剂量维生素B12治疗导致临床症状显著改善，血液学指标恢复正常。患者血清中缺乏转钴胺素II，且与转钴胺素I和转钴胺素III的结合极少。患者父母的转钴胺素II仅为正常下限的一半。使用QUSO G-32分离转钴胺素，结果经Sephacryl S-300证实。该病例说明了QUSO在快速诊断转钴胺素II缺乏症中的作用。
