Clinico-Hematological Patterns of Patients Presenting With Erythrocytosis

Shumaila Asghar; Asad Mahmood Abbasi; Jawad Zafar; Helen Mary Robert; Ayesha Khursheed; Sadia Ali

doi:10.51253/pafmj.v74i1.7447

Authors

Shumaila Asghar Department of Hematology, Armed Forces Institute of Pathology/National University of Medical Sciences (NUMS) Rawalpindi Pakistan
Asad Mahmood Abbasi Department of Hematology, Armed Forces Institute of Pathology/National University of Medical Sciences (NUMS) Rawalpindi Pakistan
Jawad Zafar Department of Hematology, Combined Military Hospital, Multan/National University of Medical Sciences (NUMS) Pakistan
Helen Mary Robert Department of Hematology, Combined Military Hospital, Lahore/National University of Medical Sciences (NUMS) Pakistan
Ayesha Khursheed Department of Hematology, Armed Forces Institute of Pathology/National University of Medical Sciences (NUMS) Rawalpindi Pakistan
Sadia Ali Department of Hematology, Armed Forces Institute of Pathology/National University of Medical Sciences (NUMS) Rawalpindi Pakistan

DOI:

https://doi.org/10.51253/pafmj.v74i1.7447

Keywords:

Bone marrow, Erythrocytosis, JAK2 Exon 12 mutations, Polycythaemia vera, Polycythemia, Janus kinase 2, Erythropoietin

Abstract

Objective: To assess the frequency of erythrocytosis and compare the clinical features and haematological parameters in
patients presenting with primary and secondary erythrocytosis in the Pakistani population.

Study Design: Cross-sectional study.

Place and Duration of Study: Armed Forces Institute of Pathology, Rawalpindi Pakistan, from May 2020 to May 2021.

Methodology: Eighty-three subjects presenting with marked erythrocytosis (Hb-17 g/dl or more, HCT – 50% or more) were
included in the study, while those admitted with conditions leading to spurious polycythaemia or patients on diuretics were
excluded. Polycythaemia vera was diagnosed as per revised WHO criteria 2016.

Results: Only 23 subjects (27.71%) fulfilled the diagnostic criteria for Polycythaemia vera, while 60 subjects (72.29%) had
secondary erythrocytosis. Significant differences were observed in haematological patterns between Polycythaemia vera and Secondary erythrocytosis patients. Of the 23 Polycythaemia vera subjects, 20(86.9%) were males and only 3(13.1%) were
females, whereas 35(58.3%) out of 60 subjects with secondary erythrocytosis were males and 25(41.6%) were females (p=0.01). Males showed a higher frequency of Polycythaemia vera and, hence, of Janus Kinase2 positivity than females (Odds ratio=0.23, p=0.02).

Conclusion: Polycythemia vera is less common than secondary erythrocytosis in the local population. Males showed a higher frequency of Polycythemia vera and, hence, of Janus Kinase2 positivity than females.

Downloads

Download data is not yet available.

References

McMullin MF. Investigation and Management of Erythrocytosis. Curr Hematol Malig Rep 2016; 11(5): 342 347.https://doi.org/10.1007/s11899-016-0334-1.

Mehta J, Wang H, Iqbal SU, Mesa R. Epidemiology of myeloproliferative neoplasms in the United States. Leuk Lymphoma 2014; 55(3): 595-600.https://doi.org/10.3109/10428194.2013.813500.

Keohane C, McMullin MF, Harrison C. The diagnosis and management of erythrocytosis. BMJ 2013; 347: f6667.

https://doi.org/10.1136/bmj.f6667.

Nevrekar R, Pai A, Khandeparkar A. Clinical Spectrum and Complications of Polycythemia, in Patients presenting at Tertiary

Care Centre at Goa. J Assoc Physicians India 2019; 67(10): 20-24.

McMullin MF, Harrison CN, Ali S, Cargo C, Chen F, Ewing J, et al; BSH Committee. A guideline for the diagnosis and

management of polycythaemia vera. A British Society for Haematology Guideline. Br J Haematol 2019; 184(2): 176-191.

https://doi.org/10.1111/bjh.15648.

Lappin TR, Lee FS. Update on mutations in the HIF: EPO pathway and their role in erythrocytosis. Blood Rev 2019; 37:

https://doi.org/10.1016/j.blre.2019.100590.

Bento C. Genetic basis of congenital erythrocytosis. Int J Lab

Hematol 2018; 40 Suppl 1: 62-67.https://doi.org/10.1111/ijlh.12828.

Randi ML, Bertozzi I, Cosi E, Santarossa C, Peroni E, Fabris F. Idiopathic erythrocytosis: a study of a large cohort with a long

follow-up. Ann Hematol 2016; 95(2): 233-237.https://doi.org/10.1007/s00277-015-2548-z.

Akram AM, Kausar H, Chaudhary A, Khalid AM, Shahzad MM, Akhtar MW, et al. Detection of Exon 12 and 14 Mutations in Janus Kinase 2 Gene Including a Novel Mutant in V617F Negative Polycythemia Vera Patients from Pakistan. J Cancer

; 9(23): 4341-4345. https://doi.org/10.7150/jca.27414.

Barbui T, Thiele J, Gisslinger H, Kvasnicka HM, Vannucchi AM, Guglielmelli P, et al. The 2016 WHO classification and diagnostic criteria for myeloproliferative neoplasms: document summary and in-depth discussion. Blood Cancer J 2018; 8(2): 15.https://doi.org/10.1038/s41408-018-0054-y.

Augustine T, Sasidharan PK, Shaan M, Sasidharan PK, Shaan M. Polycythemia Rubra vera-clinical profile & predictors of

thrombotic complications. Open Access Blood Res Transfus J 2017; 1(2): 19-23.https://doi.org/10.19080/OABTJ.2017.01.555556.

Sazawal S, Bajaj J, Chikkara S, Jain S, Bhargava R, Mahapatra M, et al. Prevalence of JAK2 V617F mutation in Indian patients with Clinico-Hematological Patterns of PatientsPak Armed Forces Med J 2024; 74(1): 7chronic myeloproliferative disorders. Indian J Med Res 2010; 132:423-427.

Khurana H, Lakshman P, Kumar K, Jain A. Dissecting Primary Erythrocytosis Among Polycythemia Patients Referred to an

Indian Armed Forces Hospital. Indian J Hematol Blood Transfus 2020; 36(1): 187-191. https://doi.org/10.1007/s12288-019-01155-0

Usman M, Bilwani F, Kakepoto GN, Adil SN, Sajid R, Khurshid M. Polycythemia vera and idiopathic erythrocytosis: Comparison of clinical and laboratory parameters. J Pak Med Assoc 2004;54(5): 249-251.

Gangat N, Wolanskyj AP, Schwager SM, Hanson CA, Tefferi A. Leukocytosis at diagnosis and the risk of subsequent thrombosis in patients with low-risk essential thrombocythemia and polycythemia vera. Cancer 2009; 115(24): 5740-5745.

https://doi.org/10.1002/cncr.24664.

Gangat N, Strand J, Li CY, Wu W, Pardanani A, Tefferi A. Leucocytosis in polycythaemia vera predicts both inferior

survival and leukaemic transformation. Br J Haematol 2007;138(3): 354-358.https://doi.org/10.1111/j.1365-2141.2007.06674.x.

Lupak O, Han X, Xie P, Mahmood S, Mohammed H, Donthireddy V. The role of a low erythropoietin level for the

polycythemia vera diagnosis. Blood Cells Mol Dis 2020 ; 80:102355. https://doi.org/10.1016/j.bcmd.2019.102355.

Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, et al. Cancer Genome Project. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 2005; 365(9464): 1054-1061.

https://doi.org/10.1016/S0140-6736(05)71142-9.

James C, Ugo V, Le Couédic JP, Staerk J, Delhommeau F, Lacout C, et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 2005; 434(7037):1144-1148. https://doi.org/10.1038/nature03546.

Levine RL, Wadleigh M, Cools J, Ebert BL, Wernig G, Huntly BJ, et al. Activating mutation in the tyrosine kinase JAK2 in

polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell 2005; 7(4): 387-397.

https://doi.org/10.1016/j.ccr.2005.03.023