Bhola Aanchal, Garg Rashi, Sharma Anuj, Gupta Neelam, Kakkar Naveen
Department of Pathology, Maharishi Markandeshwar Medical College & Hospital Kumarhatti, 173229 Solan, Himachal Pradesh India.
Indian J Hematol Blood Transfus. 2023 Apr;39(2):284-293. doi: 10.1007/s12288-022-01590-6. Epub 2022 Dec 2.
Inherited macrothrombocytopenia is an underdiagnosed condition and may result in misdiagnosis and inappropriate management. This research was done to study this condition in a hospital setting.
This study was conducted over 6 months in a teaching hospital. Patients whose complete blood count (CBC) samples were sent to the hematology laboratory were included. Patients were suspected to have inherited macrothrombocytopenia according to pre-defined criteria. Demographic information, automated CBC and peripheral smear examination was carried out. Seventy five healthy individuals and 50 patients with secondary thrombocytopenia were also analyzed.
Likely inherited macrothrombocytopenia was identified in 75 patients. Automated platelet count in these patients ranged from 26 × 10^9/L to 106 × 10^9/L while MPV ranged from 11.0 to 13.6 fL. There was significant difference (p < .001) in mean platelet volume (MPV) and platelet large cell ratio (P-LCR) amongst patients with likely inherited macrothrombocytopenia, those with secondary thrombocytopenia and the control group. Mean platelet diameter was significantly higher (3.5 ± 1.1μm) in patients with likely inherited macrothromboctopenia compared to those with secondary thrombocytopenia (2.4 ± 0.7μm) and control group (1.9 ± 0.7μm). All patients with suspected inherited macrothrombocytopenia showed abnormal platelet histograms with descending limb in the high volume and red cell zone. Four distinct histogram patterns were identified.
Inherited macrothrombocytopenia is an underdiagnosed condition. The patient's history, clinical examination, judicious use of automated CBC data including platelet histograms and careful review of the peripheral blood smear are useful tools to suspect this condition.
The online version contains supplementary material available at 10.1007/s12288-022-01590-6.
遗传性大血小板减少症是一种诊断不足的疾病,可能导致误诊和不适当的治疗。本研究旨在在医院环境中对这种疾病进行研究。
本研究在一家教学医院进行了6个月。纳入全血细胞计数(CBC)样本被送至血液学实验室的患者。根据预先定义的标准,怀疑患者患有遗传性大血小板减少症。进行了人口统计学信息、自动全血细胞计数和外周血涂片检查。还分析了75名健康个体和50名继发性血小板减少症患者。
75例患者被确定可能患有遗传性大血小板减少症。这些患者的自动血小板计数范围为26×10^9/L至106×10^9/L,而平均血小板体积(MPV)范围为11.0至13.6 fL。在可能患有遗传性大血小板减少症的患者、继发性血小板减少症患者和对照组之间,平均血小板体积(MPV)和血小板大细胞比率(P-LCR)存在显著差异(p <.001)。与继发性血小板减少症患者(2.4±0.7μm)和对照组(1.9±0.7μm)相比,可能患有遗传性大血小板减少症的患者的平均血小板直径显著更高(3.5±1.1μm)。所有疑似遗传性大血小板减少症的患者均显示血小板直方图异常,在高体积和红细胞区域有下降支。确定了四种不同的直方图模式。
遗传性大血小板减少症是一种诊断不足的疾病。患者的病史、临床检查、明智地使用包括血小板直方图在内的自动全血细胞计数数据以及仔细检查外周血涂片是怀疑这种疾病的有用工具。
在线版本包含可在10.1007/s12288-022-01590-6获取的补充材料。