JAK2 mutation, a potential cause of increasing Hemoglobin levels in symptomatic aged women
Background: Polycythemia Vera (PV) is a myeloproliferative neoplasm (MPN) characterized by the overactivity of erythroid progenitors, leading to excessive red blood cell (RBC) production. More than 90% of PV cases harbor a Janus kinase 2 (JAK2) gene mutation. This study aimed to assess the prevalenc...
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| Format: | Article |
| Language: | English |
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Golestan University of Medical Sciences
2025-03-01
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| Series: | Medical Laboratory Journal |
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| Online Access: | http://mlj.goums.ac.ir/article-1-1743-en.pdf |
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| author | Zeinab Siahmargoie Mohammad Taher Hojjati Hadi Bazzazi Khodaberdi Kalavi Mana Zakeri Hadi Joshaghani |
| author_facet | Zeinab Siahmargoie Mohammad Taher Hojjati Hadi Bazzazi Khodaberdi Kalavi Mana Zakeri Hadi Joshaghani |
| author_sort | Zeinab Siahmargoie |
| collection | DOAJ |
| description | Background: Polycythemia Vera (PV) is a myeloproliferative neoplasm (MPN) characterized by the overactivity of erythroid progenitors, leading to excessive red blood cell (RBC) production. More than 90% of PV cases harbor a Janus kinase 2 (JAK2) gene mutation. This study aimed to assess the prevalence of JAK2 mutations in individuals with elevated hemoglobin (Hb) levels referred to the laboratory by physicians.
Methods: In this descriptive cross-sectional study, genomic DNA from 72 patients was analyzed for JAK2 mutations using a TaqMan-specific probe.
Results: Of the 72 patients, 24 (33.3%) were women and 48 (66.6%) were men. JAK2 mutations were detected in 33 cases (45.5%), while 39 (54.2%) were negative. Notably, 15 of 24 female patients (62.5%) tested positive for the JAK2 mutation, compared to 18 of 48 male patients (37.5%).
Conclusion: Our findings suggest that screening for JAK2 mutations is particularly important in women with above-normal Hb levels. |
| format | Article |
| id | doaj-art-a35d5abfbc5040678170d7091cb3f2ec |
| institution | Kabale University |
| issn | 2538-4449 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Golestan University of Medical Sciences |
| record_format | Article |
| series | Medical Laboratory Journal |
| spelling | doaj-art-a35d5abfbc5040678170d7091cb3f2ec2025-08-20T03:42:18ZengGolestan University of Medical SciencesMedical Laboratory Journal2538-44492025-03-011923033JAK2 mutation, a potential cause of increasing Hemoglobin levels in symptomatic aged womenZeinab Siahmargoie0Mohammad Taher Hojjati1Hadi Bazzazi2Khodaberdi Kalavi3Mana Zakeri4Hadi Joshaghani5 Iranian Blood Transfusion Organization, Gorgan Branch, Iran Laboratory Sciences Research Center, Golestan University of Medical Sciences, Gorgan, Iran Laboratory Sciences Research Center, Golestan University of Medical Sciences, Gorgan, Iran Laboratory Sciences Research Center, Golestan University of Medical Sciences, Gorgan, Iran Department of Medical Genetics, School of Medicine, Hormozgan University of Medical Sciences, Bandar Abbas, Iran Laboratory Sciences Research Center, Golestan University of Medical Sciences, Gorgan, Iran Background: Polycythemia Vera (PV) is a myeloproliferative neoplasm (MPN) characterized by the overactivity of erythroid progenitors, leading to excessive red blood cell (RBC) production. More than 90% of PV cases harbor a Janus kinase 2 (JAK2) gene mutation. This study aimed to assess the prevalence of JAK2 mutations in individuals with elevated hemoglobin (Hb) levels referred to the laboratory by physicians. Methods: In this descriptive cross-sectional study, genomic DNA from 72 patients was analyzed for JAK2 mutations using a TaqMan-specific probe. Results: Of the 72 patients, 24 (33.3%) were women and 48 (66.6%) were men. JAK2 mutations were detected in 33 cases (45.5%), while 39 (54.2%) were negative. Notably, 15 of 24 female patients (62.5%) tested positive for the JAK2 mutation, compared to 18 of 48 male patients (37.5%). Conclusion: Our findings suggest that screening for JAK2 mutations is particularly important in women with above-normal Hb levels.http://mlj.goums.ac.ir/article-1-1743-en.pdfpolycythemia verajak2 proteinhumanmutationhemoglobinswomen |
| spellingShingle | Zeinab Siahmargoie Mohammad Taher Hojjati Hadi Bazzazi Khodaberdi Kalavi Mana Zakeri Hadi Joshaghani JAK2 mutation, a potential cause of increasing Hemoglobin levels in symptomatic aged women Medical Laboratory Journal polycythemia vera jak2 protein human mutation hemoglobins women |
| title | JAK2 mutation, a potential cause of increasing Hemoglobin levels in symptomatic aged women |
| title_full | JAK2 mutation, a potential cause of increasing Hemoglobin levels in symptomatic aged women |
| title_fullStr | JAK2 mutation, a potential cause of increasing Hemoglobin levels in symptomatic aged women |
| title_full_unstemmed | JAK2 mutation, a potential cause of increasing Hemoglobin levels in symptomatic aged women |
| title_short | JAK2 mutation, a potential cause of increasing Hemoglobin levels in symptomatic aged women |
| title_sort | jak2 mutation a potential cause of increasing hemoglobin levels in symptomatic aged women |
| topic | polycythemia vera jak2 protein human mutation hemoglobins women |
| url | http://mlj.goums.ac.ir/article-1-1743-en.pdf |
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