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JAK2 V617F Mutation Leading to Portal Vein Thrombosis in a Young Patient: A Case Report.
Cureus
December 2024
Radiodiagnosis, Malla Reddy Medical College for Women, Hyderabad, IND.
Myeloproliferative neoplasms (MPNs) are clonal hematopoietic stem cell disorders commonly characterized by excessive production of blood cell lineages. The JAK2 V617F mutation plays a crucial role in the pathogenesis of these conditions, often leading to thrombotic complications. Here, we present the case of a 21-year-old man who presented with acute abdominal pain and was found to have portal vein thrombosis with splenomegaly.
View Article and Find Full Text PDFIron Overload in Histidine-to-Aspartic Acid Substitution at 63 (H63D) Gene Heterozygous Hereditary Hemochromatosis With Erythrocytosis: A Case Report.
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 PDFComment on "Features and Allele Frequency of JAK2 exon 12-mutated Polycythemia Vera in Comparison with JAK2 V617F-mutated Disease".
Arch Med Res
January 2025
Cancer Molecular Diagnostics, St. James's Hospital, Dublin, Ireland. Electronic address:
[Effect of ten-eleven translocation methylcytosine dioxygenase 2 gene mutations on the secondary myelofibrosis of JAK2 positive myeloproliferative neoplasms patients].
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 PDFMonocytes generated by interleukin-6-treated human hematopoietic stem and progenitor cells secrete calprotectin that inhibits erythropoiesis.
iScience
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.
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