Pediatric case of hemoglobin I-high Wycombe variant.

IF 3.2 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

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

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

引用次数: 0

Abstract

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.

查看原文本刊更多论文

求助全文

约1分钟内获得全文求助全文

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.