Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/bjh.13531 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Haplotype-Resolved Genotyping and Association Analysis of 1,020 β-Thalassemia Patients by Targeted Long-Read Sequencing.
Adv Sci (Weinh)
December 2024
Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, 510515, China.
Despite the well-documented mutation spectra of β-thalassemia, the genetic variants and haplotypes of globin gene clusters modulating its clinical heterogeneity remain incompletely illustrated. Here, a targeted long-read sequencing (T-LRS) is demonstrated to capture 20 genes/loci in 1,020 β-thalassemia patients. This panel permits not only identification of thalassemia mutations at 100% of sensitivity and specificity, but also detection of rare structural variants (SVs) and single nucleotide variants (SNVs) in modifier genes/loci.
View Article and Find Full Text PDFFirst Reported Case of Hemoglobin Graz in the United States: Implications for Misleading Hemoglobin A Results.
JCEM Case Rep
January 2025
Department of Endocrinology, St. Luke's University Health Network, Bethlehem, PA 18015, USA.
Routine serum studies in a female patient with sustained prediabetic glycated hemoglobin A (HbA) levels, controlled on metformin, yielded an unexpected finding: an elevated HbA value of ≥14.9% (≥139 mmol/mol) (normal reference range, <5.7% to <39 mmol/mol).
View Article and Find Full Text PDFInsights into the interaction between hemorphins and δ-opioid receptor from molecular modeling.
Front Mol Biosci
December 2024
Department of Biology, College of Science, United Arab Emirates University, Al Ain, United Arab Emirates.
Hemorphins are short atypical opioid peptide fragments embedded in the β-chain of hemoglobin. They have received considerable attention recently due to their interaction with opioid receptors. The affinity of hemorphins to opioid receptors μ-opioid receptor (MOR), δ-opioid receptor (DOR), and κ-opioid receptor (KOR) has been well established.
View Article and Find Full Text PDFA case of concurrent Hemoglobin Lansing-Ramathibodi and Hemoglobin Constant Spring with falsely low oxygen saturation detected by pulse oximetry.
Pediatr Int
January 2025
Department of Pediatrics, Jichi Medical University, Shimotsuke, Tochigi, Japan.
False HbA value due to a rare variant of hemoglobin Petie Salpetriere coinherited with alpha thalassemia.
Adv Lab Med
December 2024
Department of Laboratory Service, Área de Gestión Sanitaria Norte de Huelva, Hospital de Riotinto, Minas de Riotinto, Huelva, Spain.
Objectives: To describe a variant hemoglobin that interferes with HbA analysis by cation exchange HPLC.
Case Presentation: A 78 years-old Spanish male patient visited the Internal Medicine Clinic for a routine check-up, with HbA included to screen for diabetes. He had suffered hypertension and dyslipidemia, and the patient had no previous symptoms suggestive of diabetes such as hyperglycemia, weight loss, polydipsia, polyuria or tiredness.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!