儿童血红蛋白I-high Wycombe变异病例。

IF 3.2 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Clinica Chimica Acta Pub Date : 2025-02-01 Epub Date: 2024-12-15 DOI:10.1016/j.cca.2024.120098

Ridwan B Ibrahim, Beverly Vispo, Titilope Fasipe, Sridevi Devaraj

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引用次数: 0

摘要

超过1400种血红蛋白（Hb）变异已被确定并表征，其表型从临床沉默到携带者的严重临床表现不等。已经建立了不同的分析方法来检测Hb变异。在这里，我们报告了首例在墨西哥裔美国婴儿中发现的血红蛋白I-High Wycombe [β59(E3) Lys → Glu]变异的儿科病例。患者身体健康，没有因这种血红蛋白病而引起的临床并发症。在这种情况下，珠蛋白链分析和反相高效液相色谱的肽图谱显示了血红蛋白I-High Wycombe的存在，这很容易被错误地报告为β地中海贫血特征。

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Pediatric case of hemoglobin I-high Wycombe variant.

Over 1400 variants of hemoglobin (Hb) have been identified and characterized with phenotypes ranging from clinically silent to severe clinical manifestations in carriers. Different analytical methods have been established to detect Hb variants. Here, we report the first pediatric case of hemoglobin I-High Wycombe [β59(E3) Lys → Glu] variant found in an infant of Mexican-American descent. The patient is thriving and has no clinical complication due to this hemoglobinopathy. In this case, globin chain analysis and peptide mapping by reversed phase high-performance liquid chromatography revealed the presence of hemoglobin I-High Wycombe which can easily be reported incorrectly as beta thalassemia trait.

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来源期刊

Clinica Chimica Acta 医学-医学实验技术

CiteScore

10.10

自引率

2.00%

发文量

1268

审稿时长

23 days

期刊介绍： The Official Journal of the International Federation of Clinical Chemistry and Laboratory Medicine (IFCC) Clinica Chimica Acta is a high-quality journal which publishes original Research Communications in the field of clinical chemistry and laboratory medicine, defined as the diagnostic application of chemistry, biochemistry, immunochemistry, biochemical aspects of hematology, toxicology, and molecular biology to the study of human disease in body fluids and cells. The objective of the journal is to publish novel information leading to a better understanding of biological mechanisms of human diseases, their prevention, diagnosis, and patient management. Reports of an applied clinical character are also welcome. Papers concerned with normal metabolic processes or with constituents of normal cells or body fluids, such as reports of experimental or clinical studies in animals, are only considered when they are clearly and directly relevant to human disease. Evaluation of commercial products have a low priority for publication, unless they are novel or represent a technological breakthrough. Studies dealing with effects of drugs and natural products and studies dealing with the redox status in various diseases are not within the journal''s scope. Development and evaluation of novel analytical methodologies where applicable to diagnostic clinical chemistry and laboratory medicine, including point-of-care testing, and topics on laboratory management and informatics will also be considered. Studies focused on emerging diagnostic technologies and (big) data analysis procedures including digitalization, mobile Health, and artificial Intelligence applied to Laboratory Medicine are also of interest.