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  1. Huge uterine fibroid in a postmenopausal woman associated with polycythaemia: a case report
    Abdul Ghaffar NA, Ismail MP, Nik Mahmood NM, Daud K, Abu Dzarr GA
    Maturitas, 2008 Jun 20;60(2):177-9.
    PMID: 18482807 DOI: 10.1016/j.maturitas.2008.03.013
    Uterine fibroid or leiomyoma is the commonest benign uterine tumour. Its occurrence in the postmenopausal age group is rare and if enlargement of the fibroid noted during this time, the diagnosis of leiomyosarcoma is provisional until proven otherwise. A case of a postmenopausal woman with a huge uterine fibroid associated with polycythaemia is presented whereby the mass was noted to increase in size within 2 years. The patient was otherwise well except for the growing uterine mass. She had venesection done to treat her polycythaemia and later underwent surgery for total abdominal hysterectomy and bilateral salpingoophoorectomy. The histopathology report confirmed leiomyoma of uterus with no evidence of sarcomatous changes. It was suggested that large uterine myoma may cause secondary polycythaemia by three postulated mechanisms, i.e. presence of hypoxia suggesting shunting within the tumour, second, the uterine fibroid was compressing the ureters resulting in inappropriate excessive production of erythropoietin by the kidneys, and third, the tumour itself may have been producing the erythropoietin.
    Matched MeSH terms: Polycythemia/complications*
  2. Fulltext Haemoglobin E trait: microcytosis and erythrocytosis
    George E, Sivagengei K
    Med J Malaysia, 1982 Jun;37(2):102-3.
    PMID: 7132828
    Matched MeSH terms: Polycythemia/blood*
  3. Response to radioactive phosphorus treatment of polycythaemia rubra vera in Malaysians: analysis of 8 cases
    Zulkifli A, Chelvam P, Weng Hwa N, Dharmalingam SK
    Med J Malaysia, 1979 Jun;33(4):346-8.
    PMID: 392273
    Matched MeSH terms: Polycythemia Vera/radiotherapy*
  4. Fulltext Plasma-derived microparticles in polycythaemia vera
    Ahadon M, Abdul Aziz S, Wong CL, Leong CF
    Malays J Pathol, 2018 Apr;40(1):41-48.
    PMID: 29704383 MyJurnal
    INTRODUCTION: Microparticles are membrane bound vesicles, measuring less than 1.0 um, which are released during cellular activation or during apoptosis. Studies have shown that these circulating microparticles play a role in coagulation, cell signaling and cellular interactions. Increased levels of circulating microparticles have been observed in a number of conditions where there is vascular dysfunction, thrombosis and inflammation. The objective of this study was to determine the various plasma-derived microparticles in patients with polycythaemia vera (PV) in Universiti Kebangsaan Malaysia Medical Centre and to compare them with normal control.

    METHODS: A total of 15 patients with PV and 15 healthy volunteers were included in this cross-sectional descriptive study. Plasma samples from both patients and healthy volunteers were prepared and further processed for isolation of microparticles. Flow cytometry analyses were then carried out in all samples to determine the cellular origin of the microparticles. Full blood count parameters for both groups were also collected. Data collected were analyzed using SPSS version 12.0.

    RESULTS: Patients with PV had a significantly higher percentage of platelet derived microparticles compared to healthy controls (P <0.05). The control group had a higher level of endothelial derived microparticles but the differences were not statistically significant (P > 0.05).

    CONCLUSION: The median percentage of positive events for platelet derived microparticles was higher in patients with PV compared to normal healthy controls.

    Matched MeSH terms: Polycythemia Vera/blood*
  5. Fulltext Polycythaemia Vera JAK 2 Mutation in a Patient with Underlying Chronic Obstructive Pulmonary Disease at a Primary Care Setting
    Mahmud R, Ariffin F, Shanmuganathan P
    Korean J Fam Med, 2020 Jul;41(4):263-266.
    PMID: 32512984 DOI: 10.4082/kjfm.18.0161
    The presence of erythrocytosis along with the diagnosis of chronic obstructive pulmonary disease (COPD) may veer a primary care clinician in a busy clinic towards attributing the erythrocytosis to hypoxia secondary to COPD; however, this is not always the case. This case highlights the importance of investigation and the significance not excluding a primary cause in COPD patients with erythrocytosis. A 57-year-old male, presenting with chronic cough, was subsequently diagnosed with COPD clinically and confirmed by spirometry. Erythrocytosis was also incidentally noted. The patient did not have any symptoms of polycythemia or hepatosplenomegaly. Therefore, the erythrocytosis was initially thought to be caused by hypoxia secondary to COPD. However, the JAK2 V617F gene mutation was detected and hence the diagnosis of polycythemia vera was made. Although the erythrocytosis was initially attributed secondary to the underlying pulmonary disease, investigations proved it to be primary in origin. This case report highlights the importance of investigating the underlying cause and to confirm the diagnosis of erythrocytosis as primary and secondary polycythemia differ in their management approach. This will avoid inappropriate diagnosis, treatment, and undesirable outcomes.
    Matched MeSH terms: Polycythemia; Polycythemia Vera
  6. Fulltext Secondary polycythaemia in a Malay girl with homozygous Hb Tak
    Amran HS, Aziz MA, George E, Mahmud N, Lee TY, Md Noor S
    Malays J Pathol, 2017 Dec;39(3):321-326.
    PMID: 29279598 MyJurnal
    Hb Tak is one of more than 200 high affinity haemoglobin variants reported worldwide. It results from the insertion of two nucleotides (AC) at the termination codon, between codon 146 and codon 147 of the beta-globin gene [Beta 147 (+AC)]. Polycythaemia is the main clinical feature although affected carriers are usually asymptomatic and do not require intervention. Several case studies in this region have reported the co-inheritance of Hb Tak with Hb E, delta beta and beta thalassaemia with one case of homozygous Hb Tak in a Thai boy. In this case report, a cluster of haemoglobin Tak was found in a family of Malay ethnic origin. Cascade family screening was conducted while investigating a 4-year old girl who presented with symptomatic polycythaemia. She had 2 previous Hb analysis done, at 7-month and 2-year-old with the diagnosis of possible Hb Q Thailand and Homozygous Hb D, respectively. Both diagnosis did not fit her clinical presentations. She was plethoric, had reduced exercise tolerance as well as cardiomyopathy. Her parents were consanguineously married and later diagnosed as asymptomatic carriers of Hb Tak. Consequently, re-analysis of the girl's blood sample revealed a homozygous state of Hb Tak. In conclusion, high oxygen affinity haemoglobin like Hb Tak should be considered in the investigation of polycythaemic patients with abnormal Hb analyses. In this case, DNA analysis was crucial in determining the correct diagnosis.
    Matched MeSH terms: Polycythemia/genetics*
  7. Fulltext Clinical and Laboratory Features of JAK2 V617F, CALR, and MPL Mutations in Malaysian Patients with Classical Myeloproliferative Neoplasm (MPN)
    Zulkeflee RH, Zulkafli Z, Johan MF, Husin A, Islam MA, Hassan R
    Int J Environ Res Public Health, 2021 Jul 16;18(14).
    PMID: 34300032 DOI: 10.3390/ijerph18147582
    Mutations of JAK2V617F, CALR, and MPL genes confirm the diagnosis of myeloproliferative neoplasm (MPN). This study aims to determine the genetic profile of JAK2V617F, CALR exon 9 Type 1 (52 bp deletion) and Type 2 (5 bp insertion), and MPL W515 L/K genes among Malaysian patients and correlate these mutations with clinical and hematologic parameters in MPN. Mutations of JAK2V617F, CALR, and MPL were analyzed in 159 Malaysian patients using allele-specific polymerase chain reaction, including 76 polycythemia vera (PV), 41 essential thrombocythemia (ET), and 42 primary myelofibrosis (PMF) mutations, and the demographics of the patients were retrieved. The result showed that 73.6% JAK2V617F, 5.66% CALR, and 27.7% were triple-negative mutations. No MPL W515L/K mutation was detected. In ET and PMF, the predominance type was the CALR Type 1 mutation. In JAK2V617F mutant patients, serum LDH was significantly higher in PMF compared to PV and ET. PV has a higher risk of evolving to post PV myelofibrosis compared to ET. A thrombotic event at initial diagnosis of 40.9% was high compared to global incidence. Only one PMF patient had a CALR mutation that transformed to acute myeloid leukemia. JAK2V617F and CALR mutations play an important role in diagnostics. Hence, every patient suspected of having a myeloproliferative neoplasm should be screened for these mutations.
    Matched MeSH terms: Polycythemia Vera*
  8. Polycythaemia Vera among Sudanese Patients with Special Emphasis on JAK2 Mutations
    Ibrahim IK, Hassan R, Ali EW, Omer A
    Asian Pac J Cancer Prev, 2019 Jan 25;20(1):41-44.
    PMID: 30677867
    Background: In recent years, a somatic point mutation in the Janus Kinase 2 (JAK2) gene (1849 G→T, V617F)
    has been reported to occur in over 90% of patients with polycythemia vera (PV). Another JAK2 mutation in exon 12
    had been described and shown capable of activating erythropoietin signaling pathways. Objective: In this study, we
    aimed to determine the frequency of Jak2 mutations (JAK2V617F and JAK2 exon 12) as well as their relationships
    with hematological parameters in Sudanese patients with myeloproliferative disorders (MPD). A comparison with
    findings of published studies from other geographic regions was included. Materials and Methods: From each of
    a total of 83 polycythaemia patients, six milliliters (ml) of venous blood were collected and processed for molecular
    analysis and measurement of serum erythropoietin level by enzyme-linked immunoassay (ELISA). The JAK2 V617F
    mutation was determined using an allele-specific competitive blocker (ACB) -PCR assay and High Resolution Melting
    (HRM) analysis was applied for the JAK2 exon 12 mutation. Results: According to patients’ history and the results
    for EPO levels, nine (10.7 %) out of 83 patients were found to have secondary polycythaemia and 74 (89.3%) PV. The
    overall frequency of the 2 JAK2 mutations was 94.6% in our Sudanese PV patients, JAK2V617F being found in 91%
    and JAK2 exon 12 mutations in 8.1%.Conclusion: In summary JAK2 V617F and JAK2 exon 12 mutations are very
    common in Sudanese PC cases.
    Matched MeSH terms: Polycythemia Vera/genetics*; Polycythemia Vera/epidemiology*
  9. Fulltext Clozapine and Polycythemia Rubra Vera: a rare side effect or a separate medical condition? – a case report
    Tan, H.P.J.
    Malaysian Journal of Psychiatry, 2016;25(2):0-0.
    MyJurnal
    This article highlights the case of a 44-year old Malay man who is diagnosed as having treatment resistant schizophrenia on Clozapine, which then developed Polycythemia Rubra Vera (PRV). It is known that a major side effect for Clozapine is of agranulocytosis, that is a potentially fatal side effect. However, there have been reported disturbances of other hematological parameters, which result in other abnormalities including leucopenia, leucocytosis, thrombocytopenia, thrombocytosis and eosinophilia. Could this case be a pure medical condition of PRV or is there a relation to the effects of Clozapine? In this paper, the aim is to report a case of blood dyscrasia in a 44-year old male who developed Polycythemia Rubra Vera a year after he was observed to have abnormal full blood count results.
    Matched MeSH terms: Polycythemia Vera
  10. A man with concomitant polycythaemia vera and chronic myeloid leukemia: the dynamics of the two disorders
    Bee PC, Gan GG, Nadarajan VS, Latiff NA, Menaka N
    Int J Hematol, 2010 Jan;91(1):136-9.
    PMID: 20047097 DOI: 10.1007/s12185-009-0471-6
    The co-occurrence of JAK2 V617F mutation with BCR-ABL reciprocal translocation is uncommon. We report a 60-year-old man who initially presented with phenotype of polycythemia vera (PV), which evolved into chronic myeloid leukemia and back to PV once treatment with imatinib was commenced. JAK2 V617F mutation and BCR-ABL fusion transcripts were detected in the initial sample. However, JAK2 V617F alleles diminished when BCR-ABL mRNA burden increased and reappeared once the patient was commenced on imatinib. The dynamic interaction between JAK2 V617F and BCR-ABL implies that two independent clones exist with the JAK2 V617F clone only achieving clonal dominance when BCR-ABL positive clones are suppressed by imatinib.
    Matched MeSH terms: Polycythemia Vera/complications*; Polycythemia Vera/genetics*
  11. Fulltext Detection of JAK2 V617F mutation among donors with erythrocytosis
    Siti Fatimah Mohamed Kamaruzzaman, Noor Haslina Mohd Noor, Shafini Mohd Yusoff, Wan Zaidah Abdullah, Mohd Nazri Hasan
    Journal of Clinical and Health Sciences, 2018;3(2):19-25.
    MyJurnal
    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.
    Matched MeSH terms: Polycythemia
  12. Fulltext The blue man who presented with a stroke
    Koh KC, Wong MH
    Malays Fam Physician, 2011;6(1):29-31.
    PMID: 25606217 MyJurnal
    A 19-year-old man presented with sudden onset of right eye ptosis, diplopia and giddiness. He had no previous medical illnesses with negative history of exertional dyspnoea, epistaxis, haemoptysis, palpitations, chest pain and chronic cough. Examination revealed central cyanosis, digital clubbing, polycythaemia, partial ptosis of right eye, diplopia on right gaze and dilated right pupil. Examination of the chest revealed pectus excavatum but no cardiac murmurs were heard. Investigations revealed a solitary right pulmonary arteriovenous malformation with two feeder vessels which were successfully embolized surgically.
    Matched MeSH terms: Polycythemia
  13. Fulltext Study on Correlations Between Glycated Haemoglobin, Lipid Profi les and Blood Glucose Levels in Type 2 Diabetics Living at Moderate High Altitude
    Rajashekar Rao, B., Parineetha, P.B., Venkata Raman, V.
    International Medical Journal Malaysia, 2010;9(2):39-44.
    MyJurnal
    Introduction: The study was conducted to look for the effects of polycythaemia on Glycosylated Haemoglobin (GHb) levels and to the see the correlations between the levels of haemoglobin, GHb, blood glucose, and lipid profi les including Atherogenic Index of plasma (AIP), in type 2 diabetics living 5800ft above sea level at Gangtok in Sikkim, India. GHb is used to predict the risk of long term complications of Diabetes mellitus (DM) like coronary artery disease (CAD). Materials and Methods: The study group consisted of Group I (Type 2 DM male patients with PPG levels 200mg/dl) and age matched healthy males formed the control group. Results: In Group I, GHb levels correlated positively with AIP, but not with TC/HDL-C ratio. In Group II, both PPG and GHb levels correlated positively with Total cholesterol (TC), LDL Cholesterol, TC /HDL-C ratio and AIP. This shows that higher PPG levels are associated with more Atherogenic lipid profi les. Study also showed higher GHb levels in controls at 7.61%, and correlated positively with postprandial glucose (PPG) levels (r = 0.92). Conclusion: In predicting risk for future CAD, PPG levels and AIP can be used as an adjunct parameter.
    Matched MeSH terms: Polycythemia
  14. A Case of Paraganglioma with Cyanotic Congenital Heart Disease
    Wahab NA, Chien BH, Omar MR, Aziz AA, Mustafa N, Sukor N, et al.
    Acta Med Indones, 2021 Jan;53(1):77-81.
    PMID: 33818409
    Co-occurrence of cyanotic congenital heart disease (CCHD) and phaeochromocytoma (PCC) and paraganglioma (PGL) are rare, although some cases have been reported. We report a case of left paraganglioma in a 20-year-old lady with an underlying CCHD who underwent palliative Glenn shunt, subsequently developed polycythaemia and cavernous sinus thrombosis presented with palpitation, sweating, headache and hypertension of 3-months duration at the age of 17. The abdominal CT scan revealed an enhancing left paraaortic mass measuring 5.2 cm x 4.4 cm x 3.8 cm. A 24-hour urine catecholamine demonstrated raised noradrenaline level to six times upper limit of normal and hence diagnosis of left sympathetic (sPGL) was made. In view of the delayed diagnosis and significant morbidity associated with her condition, surgical treatment is no longer an option. Therefore, vigilant screening and early treatment of PCC-PGL in patients with CCHD are crucial in order to avoid significant morbidity and ensure a good quality of life.
    Matched MeSH terms: Polycythemia
  15. Fulltext Presacral Extramedullary Haemopoiesis Mimicking an Ovarian Mass
    Amran, A.R., Moosa, F.
    International Medical Journal Malaysia, 2006;5(1):1-6.
    MyJurnal
    Extramedullary hematopoiesis (EH) is a rare but well-known compensatory mechanism of red blood cell production when the normal site of red bone marrow is unable to produce sufficient number of red blood cells. When the body demands for erythrocyte cells is high this lead to EH. This occurs mainly outside the bone marrow, usually paraspinally and sites which are normally observed in the fetus as in the liver, spleen, lymph nodes and less frequently at other sites such as adrenal, thymus, kidneys, pleura, breast, skin, gastrointestinal tract, dura mater and brain.This is more frequent in thalassaemia major (incidence up to 15% of cases), in myelofibrosis, myeloproliferative diseases (polycythemia rubra vera, chronic myeloid leukemia,), hemolytic anemias such as hereditary spherocytosis, pyruvate-kinase deficiency, medullary tuberculosis and in Paget’s disease of the bone. In some cases the cause of the EH are not identified [3]. We describe a case of EH in the presacral space that mimicked an ovarian mass on ultrasound in a patient with beta-thalassaemia intermedia.
    Matched MeSH terms: Polycythemia Vera
  16. Fulltext Vitamin D Deficiency and Janus kinase 2 V617F Mutation Status in Essential Thrombocythemia and Polycythemia Vera
    Yikilmaz AŞ, Akinci S, Bakanay ŞM, Dilek İ
    Malays J Med Sci, 2020 Feb;27(1):70-77.
    PMID: 32158346 DOI: 10.21315/mjms2020.27.1.7
    Introduction: Vitamin D, which is known for its effects on calcium and bone metabolism, has recently been associated with haematological malignancies. We aimed to investigate the relationship between disease findings and vitamin D deficiency in essential thrombocythemia (ET) and polycythemia vera (PV).

    Material and Methods: This retrospective cohort study conducted in Turkey included 73 patients diagnosed with PV or ET according to WHO criteria between 2012 and 2018. Vitamin D deficiency was defined as 25-OH vitamin D < 20 ng/mL. Polymerase chain reaction (PCR) was used to detect the Janus kinase 2 (JAK2) V617F mutation.

    Results: Vitamin D deficiency was found in 66.7% of PV and 74.2% of ET patients. The median follow-up time of ET and PV patients was 48 months and 47 months, respectively. Patients with the JAK2 mutation had a higher prevalence of a history of thrombosis and age older than 65 years. There was a significant relationship between JAK2 positivity and vitamin D deficiency.

    Conclusion: There was a remarkably higher prevalence of vitamin D deficiency in JAK2 mutation-positive ET and PV patients. These patients should be carefully evaluated for vitamin D deficiency. More studies are required to further investigate the association between JAK2 and vitamin D.

    Matched MeSH terms: Polycythemia Vera
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