Characterization of JAK2V617F and the JAK2 46/1 germline haplotype in myeloproliferative neoplasms in a Saudi Arabian cohort: a case-based analysis - Takeaways - MDSpire
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Analysis of JAK2V617F Mutation and JAK2 46/1 Germline Haplotype in Myeloproliferative Neoplasms Among a Saudi Arabian Population: A Case Study Approach

  • By

  • Nouf Mutrib

  • Sana Alqarni

  • Abdul Ali Peer-Zada

  • Manar Samman

  • Sabiha Fatima

  • Sadia Arjumand

  • Hala Aldahshan

  • Khalid K. Alharbi

  • May M. AlRashed

  • September 15, 2026

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  • 1

    The study analyzed the prevalence of JAK2V617F mutations and the JAK2 46/1 haplotype in a Saudi Arabian cohort of myeloproliferative neoplasms.

  • 2

    A total of 130 participants were enrolled, including 98 patients with myeloproliferative neoplasms and 32 non-MPN controls.

  • 3

    JAK2V617F mutations were found in 13.1% of patients, with no significant difference in frequency between sexes.

  • 4

    The JAK2 46/1 haplotype was present in 80.7% of participants, indicating a potential inherited predisposition to myeloproliferative neoplasms.

  • 5

    This study is the first to characterize both JAK2V617F mutations and the JAK2 46/1 haplotype in a Saudi Arabian population.

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