We describe a patient doubly heterozygous for hemoglobin (Hb) C-Hb Lepore. To our knowledge, this is only the second case reported in the United States. The erythrocyte morphology and clinical findings were suggestive of Hb C-beta-thalassemia. Following Hb electrophoresis, the correct diagnosis was postulated and was subsequently confirmed by a reference laboratory. We also present the family pedigree of Hb abnormalities. The morphologic alterations of the erythrocytes presented in this article, when seen in conjunction with the distinctive electrophoretic pattern, should suggest the abnormality in undiagnosed cases.
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Hematology
December 2025
Division of Hematology, Department of Medicine, Faculty of Medicine, Chulalongkorn University, and King Chulalongkorn Memorial Hospital, Thai Red Cross, Bangkok, Thailand.
Background: Hemoglobin (Hb) Hekinan is a prevalent α-globin variant frequently missed in thalassemia screening centers using high-performance liquid chromatography (HPLC) or capillary electrophoresis. This study aims to investigate the hematological and molecular characteristics of Hb Hekinan in a large cohort.
Methods: Hb variants were identified using isoelectric focusing (IEF) and HPLC.
Orphanet J Rare Dis
January 2025
The Genetics and Prenatal Diagnosis Center, The Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Jianshe Rd, Erqi District, Zhengzhou, 450052, Henan, China.
Objective: Spinal muscular atrophy (SMA) is a motor neuron disorder encompassing 5q and non-5q forms, causing muscle weakness and atrophy due to spinal cord cell degeneration. Understanding its genetic basis is crucial for genetic counseling and personalized treatment options.
Methods: This study retrospectively analyzed families of patients suspected of SMA at our institution from February 2006 to March 2024.
Cell
January 2025
European Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton CB10 1SA, UK. Electronic address:
Osteosarcoma is the most common primary cancer of the bone, with a peak incidence in children and young adults. Using multi-region whole-genome sequencing, we find that chromothripsis is an ongoing mutational process, occurring subclonally in 74% of osteosarcomas. Chromothripsis generates highly unstable derivative chromosomes, the ongoing evolution of which drives the acquisition of oncogenic mutations, clonal diversification, and intra-tumor heterogeneity across diverse sarcomas and carcinomas.
View Article and Find Full Text PDFNat Genet
January 2025
Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.
Understanding the molecular landscape of nonmuscle-invasive bladder cancer (NMIBC) is essential to improve risk assessment and treatment regimens. We performed a comprehensive genomic analysis of patients with NMIBC using whole-exome sequencing (n = 438), shallow whole-genome sequencing (n = 362) and total RNA sequencing (n = 414). A large genomic variation within NMIBC was observed and correlated with different molecular subtypes.
View Article and Find Full Text PDFEMBO Rep
January 2025
Université de Strasbourg, CNRS, GMGM UMR 7156, Strasbourg, France.
Genomic instability is a hallmark of tumorigenesis, yet it also plays an essential role in evolution. Large-scale population genomics studies have highlighted the importance of loss of heterozygosity (LOH) events, which have long been overlooked in the context of genetic diversity and instability. Among various types of genomic mutations, LOH events are the most common and affect a larger portion of the genome.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!