A 9-year-old child presenting with anemia accompanied by abnormal red blood cell morphology

IF 1.7 Q3 MEDICAL LABORATORY TECHNOLOGY

Practical Laboratory Medicine Pub Date : 2025-03-20 DOI:10.1016/j.plabm.2025.e00459

Huijun Qin , Yuan He , Zaixiang Xie

引用次数: 0

Abstract

Cases of anemia presenting with abnormal erythrocyte morphology often pose diagnostic challenges, particularly in patients with refractory anemia. Here, we present the case of a 9-year-old male patient under investigation for anemia, who had a history of anemia and received a blood transfusion at birth. Despite the absence of obvious clinical manifestations related to anemia thereafter, his condition was not given due consideration. The patient experienced a sudden onset of illness and was initially suspected to have thalassemia. However, subsequent pertinent examinations, notably bone marrow aspiration and genetic testing, led to the diagnosis of hereditary sideroblastic anemia alongside chronic atrophic gastritis. This case illustrates the diagnostic journey of anemia characterized by abnormal red blood cell morphology, aiming to facilitate early and accurate diagnosis, as well as prompt treatment, for such patients in clinical practice.

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一名9岁儿童，表现为贫血并伴有红细胞形态异常

以红细胞形态异常为表现的贫血病例常常给诊断带来挑战，特别是难治性贫血患者。在这里，我们提出的情况下，9岁的男性患者贫血接受调查，谁有贫血史，并接受输血出生。尽管此后没有明显的与贫血相关的临床表现，但他的病情没有得到应有的考虑。患者突然发病，最初被怀疑患有地中海贫血。然而，随后的相关检查，特别是骨髓穿刺和基因检测，导致遗传性铁母细胞性贫血和慢性萎缩性胃炎的诊断。本病例阐述了以红细胞形态异常为特征的贫血的诊断历程，旨在促进临床对这类患者的早期准确诊断和及时治疗。

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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来源期刊

Practical Laboratory Medicine Health Professions-Radiological and Ultrasound Technology

CiteScore

3.50

自引率

0.00%

发文量

审稿时长

7 weeks

期刊介绍： Practical Laboratory Medicine is a high-quality, peer-reviewed, international open-access journal publishing original research, new methods and critical evaluations, case reports and short papers in the fields of clinical chemistry and laboratory medicine. The objective of the journal is to provide practical information of immediate relevance to workers in clinical laboratories. The primary scope of the journal covers clinical chemistry, hematology, molecular biology and genetics relevant to laboratory medicine, microbiology, immunology, therapeutic drug monitoring and toxicology, laboratory management and informatics. We welcome papers which describe critical evaluations of biomarkers and their role in the diagnosis and treatment of clinically significant disease, validation of commercial and in-house IVD methods, method comparisons, interference reports, the development of new reagents and reference materials, reference range studies and regulatory compliance reports. Manuscripts describing the development of new methods applicable to laboratory medicine (including point-of-care testing) are particularly encouraged, even if preliminary or small scale.