Department of Clinical Chemistry and Haematology, University Medical Center Utrecht, Utrecht, The Netherlands.
Department of Internal Medicine, Albert Schweitzer Hospital, Dordrecht, The Netherlands.
Int J Lab Hematol. 2018 Apr;40(2):159-168. doi: 10.1111/ijlh.12758. Epub 2017 Nov 1.
Evaluation of red blood cell (RBC) morphology is an important first step in the differential diagnosis of hereditary hemolytic anemia. It is, however, labor intensive, expensive, and prone to subjectivity. To improve and standardize the analysis of RBC morphology as a screening tool in the diagnosis of hereditary hemolytic anemia, we studied its automated analysis by digital microscopy (DM).
Blood from 90 patients with hereditary hemolytic anemia and 32 normal control subjects was analyzed by the CellaVision DM96 Digital Microscope.
All hemolytic RBC abnormalities could be distinguished by the presence of at least one aberrant red cell type. In particular, the percentage of microcytes was highly sensitive and specific (AUC = 0.97) for RBC membrane disorders, and a cut-off of 5.7% microcytes was calculated to be optimal to distinguish patients from healthy controls. Subgroup analysis of patients with RBC membrane disorders revealed additional distinct differences according to the underlying gene defect. A number of cell types were significantly elevated in sickle cell anemia patients, such as polychromatic cells, macrocytes, and poikilocytes. The increase in helmet cells (AUC = 0.96) and hypochromic cells (AUC = 0.91) was specific for β-thalassemia, whereas patients with pyruvate kinase deficiency showed a significant increased polychromatic cells, macrocytes, and ovalocytes. Patients with hereditary xerocytosis showed significantly higher numbers of polychromatic cells, macrocytes, and target cells.
DM holds a promise as a useful screening tool in the diagnosis of hereditary hemolytic anemia by detecting and quantifying distinct morphological changes in RBCs in patients with various forms of hereditary hemolytic anemia.
评估红细胞（RBC）形态是遗传性溶血性贫血鉴别诊断的重要第一步。然而，这种方法既耗费人力，又昂贵，且容易产生主观性。为了改进和规范 RBC 形态分析作为遗传性溶血性贫血诊断的筛选工具，我们研究了数字显微镜（DM）对其的自动化分析。
使用 CellaVision DM96 数字显微镜分析 90 例遗传性溶血性贫血患者和 32 例正常对照者的血液。
至少有一种异常红细胞类型的存在，可以区分所有溶血性 RBC 异常。特别是微细胞的百分比对 RBC 膜异常具有高度的敏感性和特异性（AUC = 0.97），计算出 5.7%微细胞的截断值可最佳地区分患者和健康对照者。对 RBC 膜异常患者的亚组分析显示，根据潜在的基因突变，还存在其他明显的差异。镰状细胞贫血患者的多种细胞类型显著升高，如多染性细胞、大细胞和异形细胞。盔形细胞（AUC = 0.96）和低色素细胞（AUC = 0.91）的增加特异性地提示β-地中海贫血，而丙酮酸激酶缺乏症患者则表现出明显增加的多染性细胞、大细胞和椭圆形细胞。遗传性血红细胞增多症患者的多染性细胞、大细胞和靶形细胞数量明显增加。
DM 通过检测和量化各种遗传性溶血性贫血患者 RBC 中独特的形态变化，有望成为遗传性溶血性贫血诊断的有用筛选工具。
