一过性出现的口腔细胞：诊断β地中海贫血患儿遗传性口腔细胞过多症的线索

IF 2.6 4区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Journal of Clinical Laboratory Analysis Pub Date : 2023-12-13 DOI:10.1002/jcla.24991

Yanhui Chen, Qile Lin, Wenpeng Ni, Kunyi Deng, Lilian Li

引用次数: 0

摘要

遗传性口细胞增生症(OHSt)是一种罕见的疾病，其特征是红细胞体积内平衡异常。早期和准确的诊断对于适当的管理和遗传咨询至关重要。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Transient presence of stomatocytes: A clue to the diagnosis of overhydrated hereditary stomatocytosis in a child with beta-thalassemia

Overhydrated hereditary stomatocytosis (OHSt) is a rare disorder characterized by abnormalities in erythrocytic volume homeostasis. Early and accurate diagnosis is essential for appropriate management and genetic counseling.

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来源期刊

Journal of Clinical Laboratory Analysis 医学-医学实验技术

CiteScore

5.60

自引率

7.40%

发文量

584

审稿时长

6-12 weeks

期刊介绍： Journal of Clinical Laboratory Analysis publishes original articles on newly developing modes of technology and laboratory assays, with emphasis on their application in current and future clinical laboratory testing. This includes reports from the following fields: immunochemistry and toxicology, hematology and hematopathology, immunopathology, molecular diagnostics, microbiology, genetic testing, immunohematology, and clinical chemistry.