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Cureus
December 2024
Internal Medicine, National Hospital of Sri Lanka, Colombo, LKA.
Hereditary hemochromatosis occurs due to genetic mutations, namely, cysteine-to-tyrosine substitution at amino acid 282 (C282Y) and histidine-to-aspartic acid substitution at 63 (H63D) mutations. The role of H63D mutation in hemochromatosis is less clear, and its penetrance is low even in homozygotes. Therefore, iron overload in H63D heterozygotes is extremely rare and scarcely reported.
View Article and Find Full Text PDFArch Med Res
January 2025
Cancer Molecular Diagnostics, St. James's Hospital, Dublin, Ireland. Electronic address:
Zhonghua Yi Xue Za Zhi
January 2025
Department of Hematology, the Second Hospital of Tianjin Medical University, Tianjin300211, China.
To investigate the effect of ten-eleven translocation methylcytosine dioxygenase 2 (TET2) gene mutations on the secondary myelofibrosis (SMF) of JAK2 myeloproliferative neoplasms (MPN) patients. A retrospective collection was conducted on MPN patients with JAK2 mutation detected by second-generation sequencing in the Department of Hematology, the Second Hospital of Tianjin Medical University. TET2JAK2 MPN patients were selected as the mutant group, and TET2JAK2 MPN patients matched for age and gender were selected as the non-mutant group.
View Article and Find Full Text PDFiScience
January 2025
INSERM U1287, Université Paris-Saclay, Gustave Roussy Cancer Center, Villejuif, France.
Elevated circulating levels of calprotectin (CAL), the S100A8/A9 heterodimer, are biomarkers of severe systemic inflammation. Here, we investigate the effects of CAL on early human hematopoiesis. CAL demonstrates limited impact on gene expression in stem and progenitor cells, in contrast with interleukin-6 (IL6), which promotes the expression of the and genes in hematopoietic progenitors and the generation of monocytes that release CAL.
View Article and Find Full Text PDFBMC Cancer
January 2025
Centre for Medical Education, Queen's University Belfast, Belfast City Hospital, Lisburn Road, Belfast, UK.
Background: Myelofibrosis (MF) is a clonal haematopoietic disease, with median overall survival for patients with primary MF only 6.5 years. The most frequent gene mutation found in patients is JAK2, causing constitutive activation of the kinase and activation of downstream signalling.
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