背景:遗传性球形红细胞增多症(HS),一种常见的遗传性溶血性疾病,主要是以常染色体显性遗传。HS患者的临床表现表现出明显的异质性。此外,部分HS诊断试验的敏感性或特异性不理想,容易导致部分患者误诊或漏诊.这项研究的目的是提出一个简单实用的诊断方案,有助于HS的诊断及其与不同类型的溶血性贫血如地中海贫血(THAL)的鉴别诊断,自身免疫性溶血性贫血(AIHA),和葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症,因此,为更好的临床诊断HS提供一种简便可靠的替代方法。
方法:通过将我们的研究与现有的实验技术和研究相结合,我们提出了一个简单实用的HS诊断协议,这将有助于临床医生改善HS诊断。
结果:与现有的HS诊断方案相比,我们提出的HS诊断协议更简单。在这个新协议中,增加了一些具有理想诊断效率的实验测试,如平均网织红细胞体积(MRV),平均球形细胞体积(MSCV),平均红细胞体积(MCV),结合临床表现的观察,家庭调查,溶血性贫血的常规检查,基因检测,和其他筛查测试。
结论:我们提出的HS诊断方案可以提高HS的临床实践和诊断效率。
BACKGROUND: Hereditary spherocytosis (HS), a commonly encountered hereditary hemolytic disease, is mostly inherited in an autosomal dominant manner. The clinical manifestations in patients with HS show obvious heterogeneity. Moreover, the sensitivity or specificity of some HS diagnostic tests are not ideal and may easily result in misdiagnosis or missed diagnosis in some patients. The objective of this study was to propose a simple and practical diagnostic protocol, which can contribute to the diagnosis of HS and its differential diagnosis with different types of hemolytic anemia such as thalassemia (THAL), autoimmune hemolytic anemia (AIHA), and glucose-6-phosphate dehydrogenase (G6PD) deficiency, thus, to provide an alternative simple and reliable method for better clinical diagnosis of HS.
METHODS: Through combing our research with existing experimental technologies and studies, we propose a simple and practical protocol for HS diagnosis, which will help clinicians to improve HS diagnosis.
RESULTS: Compared with the existing HS diagnostic protocols, the HS diagnostic protocol we proposed is simpler. In this new protocol, some experimental tests with ideal diagnostic efficiency are added, such as mean reticulocyte volume (MRV), mean sphered cell volume (MSCV), mean corpuscular volume (MCV), in combination with the observation of clinical manifestations, family investigation, routine tests for hemolytic anemia, genetic testing, and other screening tests.
CONCLUSIONS: The HS diagnostic protocol we proposed could improve the clinical practice and efficiency of HS diagnosis.