Polycythemia Research Articles

Prevalence and diagnostic performance of iron deficiency in polycythemia

ABSTRACTIntroductionSeveral observations have shown that patients with polycythemia have iron deficiency. Our objectives were to report the prevalence of iron deficiency and to evaluate the diagnostic performance of serum ferritin in polycythemia vera.Patients and methodThis is a retrospective descriptive and analytical study carried out in the internal medicine department of the Henri Mondor Hospital, Aurillac, France. The study involved 114 patients with polycythemia, followed in the department from January 1, 2010 to December 31, 2021. To evaluate the diagnostic performance, the JAK2 mutation was considered as the gold standard of diagnosis.ResultsThirty-three patients had polycythemia vera and 76 patients had secondary polycythemia. The mean age of the patients was 61.79 years (±15.44) with a sex ratio of 4.43. The overall prevalence of iron deficiency was 21.05%. The prevalence was 53% in polycythemia vera group and 1.32% in secondary polycythemia group. The risk of iron deficiency was high in polycythemia vera (OR = 115; 95% CI [14.4-918.2], p < 0.0001) and the sensitivity and specificity of serum ferritin were 52.63% and 100% respectively.ConclusionAssessment of iron deficiency should be part of the initial evaluation of polycythemia. Iron deficiency had a high specificity during polycythemia vera.

Polycythemia among Patients with Chronic Obstructive Pulmonary Disease Admitted to the Department of Medicine in a Tertiary Care Center: A Descriptive Cross-sectional Study

Chronic obstructive pulmonary disease is a preventable and treatable disease marked by persistent airflow limitation. Abnormal rise of haemoglobin and/or hematocrit in peripheral blood is known as polycythemia which includes increased haemoglobin: greater than 16.5 g/dl in men or greater than 16.0 g/dl in women and increased hematocrit: >49% for men and >48% for women. Men, current smoking, impaired carbon monoxide diffusing capacity, severe hypoxemia, and high altitude living are risk factors associated with an increased risk for secondary polycythemia. Polycythemia contributes to the development of cor-pulmonale and pulmonary hypertension, which are linked to poor prognosis. This study aimed to find out the prevalence of polycythemia among patients with chronic obstructive pulmonary disease admitted to the department of medicine in a tertiary care centre. A descriptive cross-sectional study was conducted among patients with chronic obstructive pulmonary disease admitted to the Department of Medicine in a tertiary care centre after receiving ethical approval from Institutional Review Committee (Reference number: 153/079/080). The study was conducted from 15 September 2022 to 2 December 2022. Data were collected from the hospital records. A convenience sampling method was used. Point estimate and 95% Confidence Interval were calculated. Among 185 patients, Polycythemia was seen in 8 (4.32%) (1.39-7.25, 95% Confidence Interval) patients among which 7 (87.5%) were females and 1 (12.5%) were male. The prevalence of polycythemia was lower compared to other similar studies done in similar settings. chronic obstructive pulmonary disease; polycythemia; prevalence.

Polycythemia with elevated erythropoietin production in a patient with a urinary stone and unilateral hydronephrosis: a case report

BackgroundAbsolute polycythemia can be primary or secondary. Erythropoietin-producing diseases (for example, hypoxia) are the major cause of secondary polycythemia. There are reports of polycythemia secondary to hydronephrosis. However, to our knowledge, there is no report on polycythemia secondary to hydronephrosis due to a urinary stone. Herein, we present a case of polycythemia with an elevated erythropoietin level in a patient with a urinary stone and unilateral hydronephrosis.Case presentationA 57-year-old Japanese man presented with polycythemia and an elevated erythropoietin level. Erythropoietin accumulation was not due to erythropoietin secretion by a tumor as no obvious lesions were detected on contrast-enhanced computed tomography. Abdominal ultrasonography revealed a stone in the left urinary tract and renal hydronephrosis, and 2 weeks later, the patient underwent transurethral ureterolithotripsy without complications. Blood tests 2 weeks after transurethral ureterolithotripsy showed that the erythropoietin level had declined. Hemoglobin concentration decreased from 20.8 mg/dL before and immediately after transurethral ureterolithotripsy to 15.8 mg/dL 3 months after transurethral ureterolithotripsy. This case was diagnosed as erythropoietin elevation due to unilateral hydronephrosis with a urinary stone, resulting in polycythemia.ConclusionsHydronephrosis is a common disease but is not often associated with polycythemia. Further studies are required to elucidate the mechanism and implications of elevated erythropoietin production in hydronephrosis.

WCN23-0079 The Obliquity of the Uncommon: A Case Report on Renal Cell Carcinoma, Clear Cell Type with Secondary Polycythemia In a Young Male

WCN23-0079 The Obliquity of the Uncommon: A Case Report on Renal Cell Carcinoma, Clear Cell Type with Secondary Polycythemia In a Young Male

Revisiting the impact of serial therapeutic phlebotomy in polycythaemia on laboratory and clinical parameters using a fixed interval and fixed volume protocol.

Therapeutic phlebotomy allows for a controlled and gradual decrease in red cell mass leading to improved blood flow and symptomatic relief in polycythaemia. The present study was aimed to determine the impact of serial fixed volume and fixed interval therapeutic phlebotomy protocol on the laboratory and clinical parameters in patients of polycythaemia. This prospective longitudinal study was conducted over 18months. The desired haematocrit for polycythemia vera and secondary polycythemia was 45% and 52% respectively. A fixed volume of 350ml phlebotomy was performed every-three days till the achievement of desired haematocrit. Complete blood count was performed before and after each procedure and iron studies were done at the time of enrolment and after the achievement of desired haematocrit. Post-procedure symptomatic relief was assessed by a 10-point visual analogue scale (VAS). Of the 29 patients enrolled in the study, 3 patients were lost to follow up and data of 26 patients was analyzed. Mean Hb declined from 17.84±1.88 gdL-1 to 14.67±1.14 gdL-1 (p<0.001) and mean haematocrit decreased from a baseline of 57.11±5.47% to 46.27±3.763% (p<0.001) upon achievement of desired haematocrit. There was a significant decline in serum iron from the baseline of 132.85±94.136μg dL-1 to 69.41±58.643μg dL-1 at desired haematocrit. A significant change in VAS score of almost all clinical parameters was observed. Post phlebotomy hematocrit correlated negatively with the number of procedures (p=0.015). Our protocol yielded rapid and marked improvement in patients of primary and secondary polycythemia with minimal adverse events and significant amelioration of clinical parameters.

GAISBOCK'S SYNDROME: A CASE STUDY

Felix Gaisbock, MD, (1905) described a syndrome in patients with hypertension, increased hematocrit levels, plethoric appearances, and without splenomegaly. He hypothesized that this relative erythrocytosis was stress related. In this case report, a 38-year-old hypertensive male presented with constitutional symptoms along with new onset polycythemia. There was no splenomegaly. A workup did not show any evidence of polycythemia rubra vera (PRV) or some other secondary cause of his polycythemia. He was given appropriate supportive therapy for his constitutional symptoms. His hematocrit returned to normal levels over the next few days under observation. We concluded that this patient had Gaisbock's syndrome, a form of relative polycythemia that manifests when there is evidence of plasma contraction.

Medical complications after live donor kidney transplantation: An experience from tertiary care hospital of south Punjab, Pakistan.

Objective: To determine the frequency of medical complications after renal transplantation in recipients. Study Design: Prospective Cohort study. Setting: Nephrology Unit, Bahawal Victoria Hospital, Bahawalpur. Period: December 2018 to March 2022. Material &amp; Methods: All patients undergoing renal transplant during the study period were included. Patients unwilling to be part of this study or losing follow-ups were excluded. At the time of enrollment, all patients underwent pre-transplant work-up and routine investigations. Baseline characteristics of renal transplant recipients and donors were noted while frequency of post renal transplant medical complications was also noted. Results: In a total of 39 renal transplant recipients, 32 (82.1%) were male while the mean age was 30.31±7.21 years. Mean duration of dialysis before transplantation was 6.81±5.15 months (ranging between 0-24 months). Mean age of the live donors was 35.90±9.36 years. Mean duration of follow up was 26.15±11.62 months. Renal graft dysfunction was reported in 10 (25.6%) patients. Most common medical complications reported in post-transplantation period were sepsis 19 (48.7%), anemia 19(48.7%), secondary polycythemia 10 (25.6%), CMV infection 4 (10.3%) and new onset diabetes mellitus 3 (7.7%). Mortality was reported in 2 (5.1%) renal transplant recipients and the cause of mortality in both those patients was sepsis. Conclusion: Medical complications are common after renal transplantation. Sepsis being more common in 1st6-months post-transplant period. Early recognition and management of these complications is essential for decreasing mortality and morbidity of patients.

Chronic Kidney Disease has a Higher Prevalence in Polycythemia Vera than in Secondary Polycythemia, a Matched Case-Control Analysis.

Chronic Kidney Disease has a Higher Prevalence in Polycythemia Vera than in Secondary Polycythemia, a Matched Case-Control Analysis.

A case of AORPA in an adult presenting as secondary polycythemia

BackgroundPolycythemia refers to a condition of an abnormal increase in the red blood cell (RBC) mass. In men with a hematocrit > 60% or women with a hematocrit > 55%, there is 99% likelihood that the RBC mass is elevated. WHO uses a hemoglobin concentration > 16.5 g/dl in men or 16.0 g/dl in women to define an elevated RBC mass, in its criteria for the diagnosis of polycythemia vera. Congenital cardiac anomalies presenting as polycythemia are very rare in adults.Case presentationIn this case report, the patient presented with non-specific complaint and had an incidental finding of secondary polycythemia, ultimately diagnosed as secondary to AORPA. Our patient, a 43-year-old male, presented to our emergency with focal onset seizures without impairment of consciousness involving left upper and lower limbs. On routine investigations, the patient was found to have grade III clubbing and hemoglobin of 19.8 g/dl with elevated Erythropoietin levels. Further workup of secondary polycythemia revealed anomalous origin of the right pulmonary artery (AORPA) from the ascending aorta with tortuous patent ductus arteriosus (PDA) and pulmonary hypertension. Secondary polycythemia, in our patient, was due to right to left shunt causing Eisenmenger phenomenon, following pulmonary hypertension, making it one of the rarest presentation in adults.ConclusionIn the evaluation of secondary polycythemia, possibility of underlying asymptomatic cardiopulmonary shunt must be considered, though rare.

Phlebotomy in Secondary Polycythemia: Does It Improve Clinical Symptoms? a Systematic Review

Introduction: Secondary polycythemia (SP) is the increased number of red blood cells in the body that occurs due to elevated erythropoietin levels usually secondary to chronic hypoxia. Treating the underlying cause is the mainstay of treatment of SP. Phlebotomy is rarely used in patients with SP, especially those with symptoms related to hyperviscosity. We present a systematic review assessing the effectiveness of phlebotomy in SP. Methods: Following the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines, a comprehensive literature search was conducted on PubMed, Cochrane, and Clinical trials.gov using MeSH terms and keywords for "Polycythemia, Secondary " AND " Phlebotomy " in July 2022. We did not place any time constraints. Our search produced a total of 232 records, and duplicates were removed. After screening and removing irrelevant and review articles, we included a total of 17 original articles and case reports reporting phlebotomy as a treatment for SP in adult patients. The data were collected for baseline characteristics of the participants and efficacy and safety of the intervention. Results: A total of 86 patients from 17 articles were evaluated. (Table 1) The mean age of participants was 51 years and 89% (n=65/73) were males. Most common cause of SP was chronic obstructive pulmonary disease (COPD) 94.4%, followed by congenital cyanotic heart disease (3.4%), high altitude erythrocytosis (1.1%), and obesity hypoventilation syndrome (1.1%). Most common reported symptoms were dyspnea, confusion, headaches, exercise intolerance, and suppression of hypothalamic-pituitary-testicular axis. Two case reports also reported chorea secondary to SP while there was one case report each for hemi-retinal artery occlusion, angina attacks and portal hypertensive gastropathy. Majority of the studies had a goal hematocrit of <55%. There was subjective improvement in clinical symptoms in 85% (n=73) of the patients while 2.3% (n=2) felt worse after phlebotomy. None of the patients (9/9) with suppression of hypothalamic-pituitary-testicular axis had improvement in hormonal profile after phlebotomy. One patient developed hemiparesis, stiffness, loss of dexterity, chorea after phlebotomy with the symptoms resolving when hematocrit went back to baseline >62.5%. One patient died a week after phlebotomy due to respiratory issues. Conclusion: Phlebotomy results in clinical improvement in symptoms in patients with secondary polycythemia. Majority of the patients report either complete resolution of symptoms or at least subjective improvement. Goal hematocrit is usually <55%. Phlebotomy, although rarely used, may be considered a safe and effective treatment option for symptom management in SP, although its utility in objective improvement needs further prospective studies. Figure 1View largeDownload PPTFigure 1View largeDownload PPT Close modal

Neutrophil-to-Lymphocyte Ratio Is More Accurate Than Erythropoietin Level for the Polycythemia Vera Diagnosis

Background Polycythemia vera (PV) is a myeloproliferative neoplasm (MPN). The MPNs are cancers in which the malignant clone triggers inflammatory cytokines, which sustain the inflammatory drive in a self-perpetuating vicious cycle. The current World Health Organization (WHO) criteria for PV diagnosis are gender-specific elevated hemoglobin or hematocrit levels, tri-lineage bone marrow hypercellularity, the presence of JAK2 V617F or JAK2 exon 12 mutation, and low serum erythropoietin (EPO) concentration. Below normal EPO continues to remain the only minor criterion for the PV diagnosis, although controversy exists regarding its predictive validity. The neutrophil-to-lymphocyte ratio (NLR) is a fast and simple method for assessing inflammatory status. While it is being studied as a useful predictive marker in many disease categories, not much research has been done on NLR in MPNs. In a previous study, we confirmed that the NLR was higher in MPN patients than in the normal population. Herein, we analyzed NLR in patients with PV and secondary polycythemia and studied whether it can be a marker to help diagnose PV. Furthermore, we compared the diagnostic capacity of NLR with that of the erythropoietin level. Methods This retrospective case-control study included patients with erythrocytosis who have been tested for JAK2 between June 2007 and April 2022 at Soonchunhyang University Seoul and Bucheon hospitals. Diagnosis of PV was definitively ascertained by 2016 WHO criteria. NLR and EPO levels in patients with PV were compared to those in patients with secondary polycythemia at the time of diagnosis. The discriminatory power was calculated by area under the receiver operating characteristic curve analysis Results Of 240 patients, 70 patients had a diagnosis of PV and 170 patients had a diagnosis of secondary polycythemia. The median NLR was significantly higher in PV group than in secondary polycythemia group (6.04 vs 1.77, p < 0.001). For diagnosing PV, the AUC value of NLR was better than that of EPO (0.921 vs 0.827, respectively). The model approximated by NLR with EPO had an AUC of 0.962 (95% CI, 0.936-0.988) for differentiating PV from secondary polycythemia, which was higher than individual components of the model used alone. Conclusions We found that NLR is more accurate than EPO level for the PV diagnosis. Figure 1View largeDownload PPTFigure 1View largeDownload PPT Close modal

Hematology Referral, Stroke Recurrence and Mortality Among Patients with First Ischemic Stroke and Polycythemia or Thrombocytosis

Introduction: Stroke is the second leading cause of death and disability worldwide. In developing countries, the burden of stroke is expected to increase due to aging populations and poor management of risk factors. Essential thrombocytosis (ET), polycythemia vera (PV) and other myeloproliferative neoplasms (MPNs) are known risk factors for ischemic stroke (IS), yet the prognostic value of abnormal values of hemoglobin and platelet on admission for IS and the frequency of IS as a first manifestation of MPN are still uncertain. Objective: To determine clinical outcomes of patients with a first IS or transient ischemic attack (TIA) with and without polycythemia or thrombocytosis. Methods: We performed a retrospective analysis of all public-setting IS and TIA patients included in the Joinville Stroke Registry (JOINVASC) between January 2018 and December 2019. Data cutoff was December 2021. Patients with previous IS or TIA (n = 359), or without a complete blood count (CBC) on hospital admission were excluded (n = 13). Polycythemia was defined as hemoglobin ≥ 16 grams per deciliter in females and ≥ 16.5 in males, thrombocytosis as platelet count ≥ 450,000 platelets per microliter. Stroke recurrence was defined as a new IS or TIA after hospital discharge and event-free survival (EFS) was defined as the period over which the patient remained free from stroke recurrence or death. Study protocol was approved at the institutional review board. Results: One thousand and eleven patients were included. Median age was 67 years (interquartile range, IQR: 59-76) and 54% were male (n =546). TIA was observed as a first event in 191 patients (19%), small vessel occlusion in 143 (14%), cardioembolism in 146 (14%) and undetermined cause in 394 (39%). Mean length of hospital stay (days ± standard deviation, SD) was 12 ± 13 and 90-day mean Rankin Score (± SD) was 2 ± 1.6. At hospital admission, polycythemia was observed in 76 patients (8%), with CBCs > 6 months before admission, at hospital discharge and on outpatient follow-up also showing polycythemia in 26 (34%), 31 (41%) and 13 patients (17%). Thrombocytosis was seen in 30 patients (3%), with CBCs > 6 months before admission, at hospital discharge and on outpatient follow-up also showing thrombocytosis in 12 (40%), 20 (67%) and 11 patients (37%). Among 104 patients with either polycythemia or thrombocytosis, hematology referral was seen in 10 patients (10%), with diagnosis of MPN in 5 (5%) and solid tumor in 3 patients (3%). First IS or TIA patients with polycythemia or thrombocytosis were younger (median age 64 versus 67 years, p= 0.04) and more frequently male (72% versus 52%, p <0.0001). No differences in the incidence of stroke subtypes, length of hospital stay or 90-day Rankin Scores were observed. Stroke recurrences were more frequent among patients with polycythemia or thrombocytosis (15% versus 9%, p = 0.04) with a trend of higher mortality (34% versus 23%, p = 0.07) and a statistically significant lower 2-year EFS probability (58% versus 74%, p = 0.02) Conclusion: Polycythemia or thrombocytosis at hospital admission with first IS or TIA was associated with shorter EFS. Hematology referrals were alarmingly low, with one in every ten stroke patients with polycythemia or thrombocytosis being referred. Improving the awareness of hematological abnormalities in this patient population is key for better diagnoses of MPN or secondary polycythemia and thrombocytosis, which may result in better patient management and prevention of stroke recurrence.

Exploring the Functional Role of an Alternative mRNA Transcript of the EPO Gene

Erythropoietin (EPO) is the key regulator of erythropoiesis and stimulates the proliferation and differentiation of erythroid progenitor cells into mature erythrocytes. In a previous study, we identified a frame-shift mutation in the EPO gene that causes familial erythrocytosis with elevated erythropoietin (EPO) levels by initiating excess production of EPO protein from an alternative EPO mRNA [1]. This alternative non-coding mRNA is transcribed from a promoter (P2) located in intron 1, whereas the full length mRNA that encodes the EPO protein is transcribed from the P1 promoter located upstream of exon 1. Large parts of intron 1 sequences, including the P2 transcript are conserved among different species (Figure 1A), suggesting that the P2 transcript could have an as yet unknown physiological function. To study the putative function of the P2 transcript, we performed experiments in a human cell line, Hep3B, which can produce EPO. We used the CRISPR/Cas9 system to generate mutant Hep3B clones with targeted deletions in intron 1 of the EPO gene. Close to the P2 transcription start site in intron 1, we identified three GATA-consensus motifs that might act as promoter elements for the P2 transcript. In the first round of CRISPR/Cas9 mutagenesis, we targeted the first two GATA elements and expected to knock down the expression of the P2 transcript. Targeted Hep3B cells were sorted and deposited as single cells to derive clones that were genotyped by next generation sequencing. We obtained 2 clones with homozygous deletions in EPO intron 1 and one clone that was compound heterozygous (Figure 1A). In these Hep3B clones we assessed EPO mRNA expression by qPCR and EPO protein levels in the supernatant by ELISA (Figure 1B). Unexpectedly, the P2 transcript was still detectable in all three clones carrying deletions in intron 1 that eliminated GATA boxes 1 and 2 (data not shown). EPO P1 mRNA expression and EPO protein levels in the supernatant were slightly reduced in most of the clones. These data indicate that the GATA box 1 and 2 motifs are not required for generating the P2 transcript. We have now performed a second round of CRISPR/Cas9 mutagenesis. In one series we targeted all three GATA-motifs through a 186 bp deletion, and in a second series we targeted a highly conserved region upstream of the GATA boxes by a 93 bp deletion (Figure 1A). We obtained 4 clones homozygous for the 93 bp deletion and the clones for the 186 bp deletion are currently being expanded. The analysis of EPO mRNA and protein in these additions CRISPR/Cas9 clones will be presented. Our study shows that the GATA motifs 1 and 2 are not required for function of the P2 promoter in intron 1 of the EPO gene. However, deleting these two motifs in two different cell clones decreased the P1 full-length EPO mRNA expression and EPO protein production in Hep3B cells by 70.2% and 37.2%, respectively. Additional clones with deletion of all three GATA motifs and a highly conserved region upstream of the GATA boxes will likely provide more insights into the physiological role of the P2 transcript.

Higher Rates of Perioperative Thrombosis and Distinct Management Practices in Secondary Erythrocytosis Versus Polycythemia Vera

Higher Rates of Perioperative Thrombosis and Distinct Management Practices in Secondary Erythrocytosis Versus Polycythemia Vera

Diagnosis and genetic analysis of polycythemia in children and a novel EPAS1 gene mutation.

Unlike in adults, there is no consensus on management and diagnosis of polycythemia in children. This study aims to evaluate the diagnosis and verify the algorithm in children with polycythemia. Seventy-nine children with polycythemia were followed-up in our pediatric hematology-oncology clinic between December 15, 2019, and July 15, 2021. After eliminating secondary causes (hypoxia, pulmonary, cardiac diseases), we checked for genetic mutations, including congenital erythrocytosis gene panel (JAK, EPOR, EPAS1, EGNL1, HBB, HBA, BPGM, and VHL). We also compared parameters for secondary and idiopathic polycythemia groups. Of the 79 children, thirty-five had secondary polycythemia (hypoxia, pulmonary, cardiac diseases), and one was diagnosed with a novel likely pathogenic mutation c.2089C>G; p.Pro697Ala in exon 13 of EPAS1 gene. Others (n=35) had persistent and idiopathic polycythemia. Here, we compared the idiopathic and secondary cases. We found that the ratio of family history of polycythemia (n=4 (9.5%) vs 0%, respectively) was higher in the second group (p=0.009). In addition, the mean age (14.7±3.52 vs 13.4±4.67 respectively) (p=0.042) and the ratio of erythroid hyperplasia in bone marrow [n=3 (8.6%) vs 0% respectively] (p=0.003) was higher in the idiopathic polycythemia group, compared to secondary polycythemia patients. Finding the genetic defect in polycythemia is a significant issue. Due to being a rarity in children, the first line JAK mutation analysis should be performed in selected cases. This study is the first description of a Turkish patient with EPAS1 p.Pro697Ala mutation, thereby expanding our knowledge about the clinical features of the disease. However, new investigations are required to confirm its function.

Cardiac dysfunction and pulmonary systolic hypertension among patients with homozygous VHLR200W mutation (Chuvash polycythemia)

Pulmonary hypertension occurs with chronic high-altitude hypoxia and is exacerbated by iron deficiency. Chuvash polycythemia, due to homozygosity for the R200W mutation in the von Hippel Lindau gene ( VHL ), is characterized in normoxia by elevated levels of hypoxia inducible factors HIF-1 and HIF-2, transcription factors regulating many hypoxia-inducible genes. Three cross-sectional clinical and echocardiography study in Chuvashia, Russian Federation among 120 child and adult VHL R200W homozygotes and 31 VHL- wildtype controls under basal conditions. VHL R200W homozygotes had frequently been treated by phlebotomy and were often iron-deficient based on low ferritin. After adjustment for age, sex, and hemoglobin concentration, the mean ± SD systolic blood pressure tended to be lower in VHL R200W homozygotes compared to controls (112 ± 15.1 vs. 119 ± 17.2 mm Hg; P = .045). In contrast, the echo-determined tricuspid regurgitation velocity (TRV), which reflects right ventricular systolic pressure, was significantly higher in the VHL R200W homozygotes (2.5 ± 0.3 vs. 2.3 ± 0.4 m/s, P = .007). The left ventricular diastolic dimension (4.8 ± 0.5 vs. 4.5 ± 0.6 cm; P = .039) and left atrial diameter (3.4 ± 0.5 vs. 3.2 ± 0.5; P = .045) tended to be larger in the VHL R200W homozygotes, but this was not the case for the mitral valve E/Etdi ratio. Among VHL R200W homozygotes, phlebotomy therapy was associated with lower ferritin, and low ferritin independently predicted higher TRV (standardized beta = −0.29; P = .009). Children and adults with congenital upregulation of HIF-1 and 2 tend to have higher right ventricular systolic pressure as estimated by echocardiography than control subjects. Similar to high-altitude pulmonary hypertension, iron deficiency may contribute to elevated right ventricular systolic pressure in Chuvash polycythemia.

POLYCYTHEMIAWITH HYDRONEPHROSIS:A RARE CASE

Secondary polycythaemia results from increased Erythropoietin production which acts on normal erythropoietic progenitors leading to erythrocytosis. This report is about a 64 years old hypertensive and anaemic male who presented with complaints of painful per rectal bleeding with dribbling micturition. On undergoing relevant investigations, he was found to be anaemic with low haemoglobin and haematocrit. Lateron, subsequent follow up visits he was incidentally detected to be polycythemic. On further investigations for the same, he got diagnosed with urinary bladder outlet obstruction, atonic bladder with ureteric narrowing and left hydronephrosis with elevated erythropoietin levels. On treatment, his Haemoglobin count, haematocrit and Erythropoietin levels came back to normal.Unexplained polycythaemia should be thoroughly investigated to rule out renal pathology.

Prevalence of elevated hemoglobin and hematocrit levels in patients with obstructive sleep apnea and the impact of treatment with continuous positive airway pressure: a meta-analysis

ABSTRACT Objectives Obstructive sleep apnea (OSA) is reported to be a cause of secondary polycythemia. The present study (i) reviewed the literature reporting the prevalence of secondary polycythemia in patients with OSA and (ii) determined the effect of continuous positive airway pressure (CPAP) therapy on hemoglobin and hematocrit levels in patients with OSA. Methods We searched MEDLINE, Embase and Cochrane for studies of adult patients with OSA that reported hemoglobin and/or hematocrit levels. We performed summary estimates of (i) polycythemia prevalence and a subgroup analysis according to OSA severity, and (ii) change in hemoglobin and hematocrit levels following treatment with CPAP. Results Synthesis of seven studies including 3,654 patients revealed an overall polycythemia prevalence of 2% (95% CI 1–4%); 2% (95% CI 1–3%) in mild-to moderate and 6 % (95% CI 3–12%) in severe OSA. In the pooled analysis of ten single-arm trials including 434 patients, CPAP treatment reduced hemoglobin by 3.76 g/L (95% CI −4.73 to −2.80 g/L). Similarly, pooled analysis of ten single-arm trials including 356 patients without baseline polycythemia showed that CPAP treatment reduced hematocrit by 1.1% (95% CI −1.4 to −0.9%). Conclusion Our pooled analysis supports an increased prevalence of secondary polycythemia in OSA. This estimated prevalence is likely underestimated due to the change in the polycythemia diagnostic criteria in 2016. Future randomized controlled trials are needed to evaluate the effect of CPAP in patients with baseline polycythemia. HIGHLIGHTS Pooled analysis shows OSA is associated with an increased prevalence of secondary polycythemia Prevalence of polycythemia is greater in severe OSA CPAP treatment for OSA reduces both the hemoglobin and hematocrit

Effects of idiopathic erythrocytosis on the left ventricular diastolic functions and the spectrum of genetic mutations: A case control study.

Background:We have aimed at exposing left ventricular diastolic functions and the presence of known genetic mutations for familial erythrocytosis, in patients who exhibit idiopathic erythrocytosis.Methods:Sixty-four patients with idiopathic erythrocytosis (mean age, 46.4 ± 2.7 years) and 30 age-matched healthy subjects were prospectively evaluated. The regions of interest of the erythropoietin receptor, hemoglobin beta-globin, von Hippel-Lindau, hypoxia-inducible factor 2 alpha, and Egl-9 family hypoxia-inducible factor genes were amplified by PCR. Left ventricular (LV) mass was measured by M-mode and 2-dimensional echocardiography. LV diastolic functions were assessed by conventional echocardiography and tissue Doppler imaging.Results:As a result of genetic analyses, genetic mutations for familial erythrocytosis were detected in 5 patients. It has been observed in our study that the risk of cardiovascular disorders is higher in patients. Interventricular septum thickness, left atrial diameter, and some diastolic function parameters such as deceleration time and isovolumetric relaxation time have been found to be significantly higher in idiopathic erythrocytosis group than in the controls.Conclusion:This study has shown that LV diastolic functions were impaired in patients with idiopathic erythrocytosis. In this patient group with increased risk of cardiovascular disorders, the frequent genetic mutations have been detected in 5 patients only. Therefore, further clinical investigations are needed as novel genetic mutations may be discovered in patients with idiopathic erythrocytosis because of cardiovascular risk.

Analysis of JAK2V617F Tyrosine Kinase Mutation in Blood Donors with Erythrocytosis - A Pilot Study in a Tertiary Care Teaching Hospital of South India.

PurposeTransfusion services and blood centers provide immediate medical evaluation to blood donors by physical examination and hemoglobin (Hb) screening. Screening for Hb value before every blood donation is mainly aimed to rule out anemia. However, it is not uncommon to defer the donors for high Hb value which can be due to primary or secondary polycythemia. This study aimed to analyze the frequency of JAK2V617F mutation among blood donors with a high Hb of >18 g/dl.Patients and MethodsA prospective study was conducted over a period of 18 months involving blood donors with a persistently high Hb value of >18 g/dl. Complete blood count (CBC), JAK2V617F gene mutation and Serum Erythropoietin (EPO) levels in study donors were analyzed. Descriptive statistical analysis was performed using SPSS, version 24 (IBM, USA).ResultsOf 13,798 screened donors, 48 donors (0.34%) had persistent erythrocytosis with a high Hb value of >18 g/dl. Their age ranged between 20–50 years with a mean of 31.2 ± 6.66. The CBC parameters including red blood cell (RBC) count, Hb%, hematocrit (Hct), white blood cell (WBC) count and the platelet count ranged from 4.35–8.43 million/µL (6.2 ± 0.6), 18.6–24.4 g/dl (19 ± 0.94), 51.9–83.3% (58 ± 5.02), 3.99–10.8 × 103/µL (7.8 ± 1.5), and 120–450 × 103/µL (227 ± 57.2), respectively. Estimated mean EPO value was 8.29 mIU/± 0.04. JAK2V617F mutation was detected in 2 donors (4.1%).ConclusionThe prevalence of persistent erythrocytosis among blood donors was 0.34% and among them, two donors (4.1%) harbored the JAK2V617F mutation. Thus, blood centers play an important role in the primary screening of donors with high hemoglobin leading to early detection and management of polycythemia vera (PV).