Detection of JAK2 V617F Mutation among Donors with Erythrocytosis / Siti Fatimah Mohamed Kamaruzzaman … [et al.]

Mohamed Kamaruzzaman, Siti Fatimah and Mohd Noor, Noor Haslina and Mohd Yusoff, Shafini and Abdullah, Wan Zaidah and Hasan, Mohd Nazri (2018) Detection of JAK2 V617F Mutation among Donors with Erythrocytosis / Siti Fatimah Mohamed Kamaruzzaman … [et al.]. Journal of Clinical and Health Sciences, 3 (2). pp. 19-25. ISSN 0127 – 984X

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Abstract

Introduction: It is mandatory that every blood donor must have their haemoglobin (Hb) values measured before blood donation. High Hb may indicate an underlying hidden pathological condition. The aim of this study is to investigate the occurrence of the JAK2 V617F gene mutation in blood donors with erythrocytosis. Methods: A cross-sectional study was conducted over a nine-month period involving blood donors with high pre-donation Hb. A total of 45 blood donors with total white cell (TWC) > 12.0x 109/l, platelet > 450x109/ l and Hb > 18g/dL were subjected to JAK2 V617F gene mutation analysis. Samples were collected and analysed for haematological tests and detection of JAK2 V617F mutation. Results: From a total of 2238 blood donors, 175 blood donors had high haemoglobin value. Samples from forty-five of these donors were then analysed for JAK2 V617F using allele-specific polymerase chain reaction (PCR). The prevalence of blood donors with erythrocytosis was 7.8%. All samples were negative for the JAK2 V617F mutation. Conclusions: Erythrocytosis can be relative or absolute and the different causes can be distinguished on the basis of clinical signs and symptoms. An absence of the JAK2 V617F mutation cannot by itself excludes the diagnosis of polycyhaemia vera (PV) since erythrocytosis is the single clinical feature that sets PV apart from other types of myeloproliferative neoplasm (MPN). Further study is required for the detection of other gene mutations that activates the JAK-STAT signalling pathway that could be identified in JAK2 V617F-negative MPN patients.

Metadata

Item Type: Article
Creators:
Creators
Email
Mohamed Kamaruzzaman, Siti Fatimah
UNSPECIFIED
Mohd Noor, Noor Haslina
UNSPECIFIED
Mohd Yusoff, Shafini
UNSPECIFIED
Abdullah, Wan Zaidah
UNSPECIFIED
Hasan, Mohd Nazri
UNSPECIFIED
Subjects: R Medicine > R Medicine (General)
R Medicine > RB Pathology > Clinical pathology. Laboratory technique > Examination of the blood
R Medicine > RC Internal Medicine > Specialties of internal medicine > Diseases of the blood and blood-forming organs
R Medicine > RM Therapeutics. Pharmacology
Divisions: Universiti Teknologi MARA, Selangor > Puncak Alam Campus > Faculty of Medicine
Journal or Publication Title: Journal of Clinical and Health Sciences
UiTM Journal Collections: UiTM Journal > Journal of Clinical and Health Sciences (JCHS)
ISSN: 0127 – 984X
Volume: 3
Number: 2
Page Range: pp. 19-25
Official URL: https://jchs-medicine.uitm.edu.my/index.php
Item ID: 44052
Uncontrolled Keywords: Blood donors, JAK 2 V617F mutation, erythrocytosis
URI: https://ir.uitm.edu.my/id/eprint/44052

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44052

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