Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Background: Hemoglobin (Hb) J-Cubujuqui is a rare Hb variant, and reports about it are very limited. There are no descriptions that it affects the results of glycated Hb.
Methods: In this study, we describe a rare variant discovered during newborn screening. Both high-performance liquid chromatography (HPLC) and capillary electrophoresis for hemoglobin analysis displayed abnormal peaks. The Hb variant was confirmed by Sanger sequencing.
Results: The pedigree study shows the variant was inherited from the newborn's father. His fasting blood glucose (FBG) level was 5.5 mmol/L. HbA1c measured by HPLC was falsely low in her father (2.41%), whereas that measured by immunoassay was normal (5.11%). Sanger sequencing revealed a heterozygous mutation (CGT˃AGT) at amino acid position 141 of the α1 gene, corresponding to Hb J-Cubujuqui [α1 141(HC3) Arg→Ser (CGT˃AGT); HBA1:c.424C˃A (or HBA2)].
Conclusions: This is the first report that Hb J-Cubujuqui interferes with the measurement of HbA1cand prompts clinicians to pay attention to the accuracy of glycated Hb results.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.7754/Clin.Lab.2023.230502 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A pediatric-onset case of chronic kidney disease caused by a novel sporadic variant and literature review.
Turk J Pediatr
September 2025
West China School of Public Health and West China Fourth Hospital, Sichuan University, Chengdu, Sichuan, China.
Background: The α-actinin-4 (ACTN4) gene encodes an actin-binding protein, which plays a crucial role in maintaining the structure and function of podocytes. Previous studies have confirmed that ACTN4 mutations can lead to focal segmental glomerulosclerosis-1 (FSGS1), a rare disease primarily manifesting in adolescence or adulthood, characterized by mild to moderate proteinuria, with some cases progressing slowly to end-stage renal disease.
Case Presentation: We report a 12.
Germline rare variants in cancer susceptibility genes and subsequent neoplasm risk after childhood cancer.
J Natl Cancer Inst
September 2025
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland, United States.
Background: Among childhood cancer survivors, germline rare variants in autosomal dominant cancer susceptibility genes (AD CSGs) could increase subsequent neoplasm (SNs) risks, but risks for rarer SNs and by age at onset are not well understood.
Methods: We pooled the Childhood Cancer Survivor Study and St Jude Lifetime Cohort (median follow-up = 29.7 years, range 7.
Neonatal diabetes: 20-year experience from a tertiary care pediatric diabetes clinic in north India.
Horm Res Paediatr
September 2025
Background: Neonatal diabetes mellitus (NDM) is a rare monogenic disorder, typically diagnosed within the first six months of life. While NDM is well-recognized globally, data from India regarding its clinical characteristics, treatment strategies, and long-term outcomes are scarce.
Objectives: To describe the molecular characterization, clinical phenotype and follow-up of children with NDM.
Undifferentiated Carcinoma With Osteoclast-like Giant Cells of the Pancreaticobiliary Tract: A Single Tertiary-Care-Oncology Center Case Series.
Int J Surg Pathol
September 2025
Department of Pathology, Tata Memorial Hospital & Advanced Centre for Treatment and Research, Tata Memorial Centre, Homi Bhabha National Institute, Mumbai, India.
Undifferentiated carcinomas with osteoclast-like giant cells of the pancreaticobiliary tract (UCOGCs) are rare but distinctive tumors with limited literature. To study the clinicopathologic characteristics of UCOGCs including morphology, immunohistochemistry (IHC), management, and survival outcomes. Assessment of 12 patients of UCOGC found over 10 years from a tertiary care oncology center database.
View Article and Find Full Text PDFengineering of acetylesterase for enhanced thermal stability and efficiency.
J Biomol Struct Dyn
September 2025
Department of Biology, Faculty of Science, University of Sistan and Baluchestan, Zahedan, Iran.
Acetylesterase, produced by , plays a crucial role in deacetylating hemicellulose during pulp production. Thermostable variants of this enzyme, although rare, can significantly enhance industrial efficiency by retaining activity at high temperatures. This research aims to design a thermostable variant of acetylesterase from (EC 3.
View Article and Find Full Text PDF