Two types of alpha+ thalassemia (-alpha l) have been described, respectively termed leftward and rightward, which correspond to nonhomologous crossing-over in different homology zones X and Z within the alpha-globin gene cluster. Up to now the leftward type has been described only in Asiatic populations, whereas the rightward type is universally distributed. We report here a first case of leftward deletion observed in a Sicilian male. This raises the question of an identical or not crossing-over event.
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Front Biosci (Landmark Ed)
January 2025
The Key Laboratory of Model Animals and Stem Cell Biology in Hunan Province, Hunan Normal University Health Science Center, 410013 Changsha, Hunan, China.
Background: α thalassemia/mental retardation syndrome X-linked (ATRX) serves as a part of the sucrose nonfermenting 2 (SNF2) chromatin-remodeling complex. In interphase, ATRX localizes to pericentromeric heterochromatin, contributing to DNA double-strand break repair, DNA replication, and telomere maintenance. During mitosis, most ATRX proteins are removed from chromosomal arms, leaving a pool near the centromere region in mammalian cells, which is critical for accurate chromosome congression and sister chromatid cohesion protection.
View Article and Find Full Text PDFMolecules
January 2025
Faculty of Science, Pavol Jozef Šafárik University in Košice, Park Angelinum 19, 040 01 Košice, Slovakia.
Hemoglobin is an oxygen-transport protein in red blood cells that interacts with multiple ligands, e.g., oxygen, carbon dioxide, carbon monoxide, and nitric oxide.
View Article and Find Full Text PDFGenes (Basel)
December 2024
Laboratory of Medical Genetics, Clinical Pathology UOC, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Unlabelled: Thalassemias and hemoglobinopathies are among the most common genetic diseases worldwide and have a significant impact on public health. The decreasing cost of next-generation sequencing (NGS) has quickly enabled the development of new assays that allow for the simultaneous analysis of small nucleotide variants (SNVs) and copy number variants (CNVs) as deletions/duplications of α- and β-globin genes.
Background/objectives: This study highlighted the efficacy and rapid identification of all types of mutations in the α- and β-globin genes, including silent variants, using the Devyser Thalassemia NGS kit.
Clin Chim Acta
January 2025
Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, National Clinical Research Centre for Obstetric & Gynecologic Disease, Beijing 100730 China. Electronic address:
Thalassemia is an inherited blood disorder and traditionally considered more prevalent in Southern China. However, with increased migration and intermarriage, more and more thalassemia carriers had been reported in Northern China. The lack of screening for thalassemia carriers may also result in missed diagnosis in Northern China.
View Article and Find Full Text PDFArch Pathol Lab Med
January 2025
From the Department of Pathology, University of Michigan Medical School, Ann Arbor.
Context.—: High-grade astrocytoma with piloid features (HGAP) is a newly recognized glioma defined by its methylation profile. Understanding of its clinical, histologic, and molecular characteristics continues to evolve.
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