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. KEYWORDS: Blood donors, JAK 2 V617F mutation, erythrocytosis
Highlights
It is mandatory that every blood donor must have their haemoglobin (Hb) values measured before blood donation
The importance of paying due attention to the blood cell count of the donors was highlighted [11]. In view of their finding, we strongly suggest that blood donors with high Hb level should be investigated thoroughly in order to exclude any significant pathological conditions that are associated with erythrocytosis
We investigate the occurrence of the JAK2 V617F gene mutation in a cohort of blood donors with erythrocytosis
Summary
It is mandatory that every blood donor must have their haemoglobin (Hb) values measured before blood donation. The term polycythaemia refers to a cluster of disorders, typically characterised by a persistent elevation in haematocrit (HCT) due to an increase in erythrocytes in the blood circulation [1]. It is suspected when the individual presented with a Hb or HCT above the normal reference range (i.e. Hb level is above 18.5 g/dL or the packed cell volume (PCV)/ HCT is greater than 0.52 in male; and 16.5 g/dL or 0.48 in female respectively) [2]. Relative erythrocytosis refers to a condition in which the HCT is elevated, normal red cell mass (RCM), while the plasma volume may be reduced. It is diagnosed based on the exclusion of various primary or secondary polycythaemias (congenital or acquired) [5]
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
