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Genes Sep 2022Primary familial and congenital polycythemia is a rare disease characterized by an increase in red cell mass that may be due to pathogenic variants in the EPO receptor... (Review)
Review
Primary familial and congenital polycythemia is a rare disease characterized by an increase in red cell mass that may be due to pathogenic variants in the EPO receptor () gene. To date, 33 genetic variants have been reported to be associated. We analyzed the presence of variants in two patients with polycythemia in whom pathogenic variants had been previously discarded. Molecular analysis of the gene was performed by Sanger sequencing of the coding regions and exon/intron boundaries of exon 8. We performed in vitro culture of erythroid progenitor cells. Segregation studies were done whenever possible. The two patients studied showed hypersensitivity to EPO in in vitro cultures. Analysis of the gene unveiled two novel pathogenic variants. Genetic testing of asymptomatic relatives could guarantee surveillance and proper management.
Topics: Humans; Receptors, Erythropoietin; Polycythemia
PubMed: 36292571
DOI: 10.3390/genes13101686 -
Current Hematologic Malignancy Reports Dec 2014The myeloproliferative disorders (MPDs) are a group of hematologic diseases with significant overlap in both clinical phenotype and genetic etiology. While most often... (Review)
Review
The myeloproliferative disorders (MPDs) are a group of hematologic diseases with significant overlap in both clinical phenotype and genetic etiology. While most often caused by acquired somatic mutations in hematopoietic stem cells, the presence of familial clustering in MPD cases suggests that inheritance is an important factor in the etiology of this disease. Though far less common than sporadic disease, inherited MPDs can be clinically indistinguishable from sporadic disease. Recently, germline mutations in Janus kinase 2 (JAK2) and MPL, two genes frequently mutated in sporadic MPD, have been shown to cause inherited thrombocytosis. Study of the function of these mutant proteins has led to a new understanding of the biological mechanisms that produce myeloproliferative disease. In this review, we summarize the data regarding inherited mutations that cause or predispose to MPDs, with a focus on the biological effects of mutant proteins. We propose that defining inherited MPDs in this manner has the potential to simplify diagnosis in a group of disorders that can be difficult to differentiate clinically.
Topics: Humans; Myeloproliferative Disorders; Polycythemia
PubMed: 25195195
DOI: 10.1007/s11899-014-0232-3 -
High Altitude Medicine & Biology Dec 2018The present study was designed to define the hemoglobin [Hb] increase with altitude in Peruvian children. We suggest the normal range of [Hb] as means ±2 standard...
The present study was designed to define the hemoglobin [Hb] increase with altitude in Peruvian children. We suggest the normal range of [Hb] as means ±2 standard deviations (SD), with a value less than - 2 SD as a possible threshold to detect anemia. The prevalence of anemia was calculated. These values were compared to the World Health Organization (WHO) altitude correction parameter and the threshold for anemia of 11 g/dL. Likewise, polycythemia is suggested as [Hb] greater than 2 SD. 2,028,701 children aged 6-59 months were analyzed. The quadratic regression analysis shows that [Hb] is constant between sea level and 999 m. Thereafter, [Hb] increases from 11.32 g/dL (1000 m) up to ∼14.54 g/dL at 4000 m. Applying the threshold for anemia defined by WHO (11 g/dL) results in a prevalence of ∼35% for children living at altitudes <1000 m, and prevalence decreases to ∼4.5% at >4000 m. After [Hb] altitude correction, the prevalence was ∼36% (1000 m) and increases to ∼66% above 4000 m. With our proposed threshold for anemia, the prevalence was ∼15% below 1000 m and ∼5% above 4000 m. For polycythemia ([Hb] >14.5 g/dL), increases were from 1.2% at <1000 m to 39.4% at 4000 m. After [Hb] correction for altitude, the prevalence of polycythemia decreases with altitude. Excessive erythrocytosis defined as [Hb] >19 g/dL shows the highest values at 4000 m, while polycythemia defined as [Hb] greater than 2 SD was reduced at high altitude (HA). In conclusion, using WHO thresholds for anemia and [Hb] correction by altitude most likely overestimates the prevalence of anemia and may underestimate polycythemia in Peruvian children living at HA. Therefore, new threshold values for anemia and polycythemia as mean [Hb] less than 2 SD and greater than 2 SD for populations living at a specific altitude are suggested.
Topics: Altitude; Anemia; Child, Preschool; Female; Hemoglobins; Humans; Infant; Male; Peru; Polycythemia; Prevalence; Reference Standards; Reference Values; Regression Analysis; World Health Organization
PubMed: 30251888
DOI: 10.1089/ham.2018.0032 -
JNMA; Journal of the Nepal Medical... Apr 2023Chronic obstructive pulmonary disease is a preventable and treatable disease marked by persistent airflow limitation. Abnormal rise of haemoglobin and/or hematocrit in...
Polycythemia among Patients with Chronic Obstructive Pulmonary Disease Admitted to the Department of Medicine in a Tertiary Care Center: A Descriptive Cross-sectional Study.
INTRODUCTION
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.
METHODS
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.
RESULTS
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.
CONCLUSIONS
The prevalence of polycythemia was lower compared to other similar studies done in similar settings.
KEYWORDS
chronic obstructive pulmonary disease; polycythemia; prevalence.
Topics: Humans; Female; Male; Polycythemia; Tertiary Care Centers; Cross-Sectional Studies; Pulmonary Disease, Chronic Obstructive; Hematocrit; Hypertension, Pulmonary
PubMed: 37208878
DOI: 10.31729/jnma.8125 -
CMAJ : Canadian Medical Association... Oct 2017
Topics: Androgens; Humans; Male; Middle Aged; Polycythemia; Testosterone
PubMed: 29038321
DOI: 10.1503/cmaj.170683 -
The Canadian Veterinary Journal = La... Apr 1974
Topics: Animals; Cat Diseases; Cats; Male; Polycythemia; Tetralogy of Fallot
PubMed: 4826488
DOI: No ID Found -
Annals of Hematology Aug 2021Erythrocytosis has a diverse background. While polycythaemia vera has well defined criteria, the diagnostic approach and management of other types of erythrocytosis are...
Erythrocytosis has a diverse background. While polycythaemia vera has well defined criteria, the diagnostic approach and management of other types of erythrocytosis are more challenging. The aim of study was to retrospectively analyse the aetiology and management of non-clonal erythrocytosis patients referred to a haematology outpatient clinic in an 8-year period using a 3-step algorithm. The first step was inclusion of patients with Hb > 185 g/L and/or Hct > 0.52 in men and Hb > 165 g/L and/or Hct > 0.48 in women on two visits ≥ two months apart, thus confirming true erythrocytosis. Secondly, polycythaemia vera was excluded and secondary causes of erythrocytosis (SE) identified. Thirdly, idiopathic erythrocytosis patients (IE) were referred to next-generation sequencing for possible genetic background evaluation. Of the 116 patients, 75 (65%) are men and 41 (35%) women, with non-clonal erythrocytosis 34/116 (29%) had SE, 15/116 (13%) IE and 67/116 (58%) stayed incompletely characterized (ICE). Patients with SE were significantly older and had significantly higher Hb and Hct compared to patients with IE. Most frequently, SE was attributed to obstructive sleep apnoea and smoking. Phlebotomies were performed in 56, 53 and 40% of patients in the SE, IE, and ICE group, respectively. Approx. 70% of patients in each group received aspirin. Thrombotic events were registered in 12, 20 and 15% of SE, IE and ICE patients, respectively. Congenital erythrocytosis type 4 (ECYT4) was diagnosed in one patient. The study demonstrates real-life management of non-clonal erythrocytosis which could be optimized using a 3-step diagnostic algorithm.
Topics: Adult; Disease Management; Female; High-Throughput Nucleotide Sequencing; Humans; Male; Middle Aged; Phlebotomy; Polycythemia; Retrospective Studies
PubMed: 34013406
DOI: 10.1007/s00277-021-04546-4 -
Proceedings of the Royal Society of... Dec 1968
Topics: Aged; Erythropoietin; Female; Humans; Leiomyoma; Middle Aged; Polycythemia; Uterine Neoplasms
PubMed: 5727006
DOI: No ID Found -
Archives of Disease in Childhood Jan 2002
Review
Topics: Developmental Disabilities; Evidence-Based Medicine; Humans; Infant, Newborn; Plasma Exchange; Polycythemia; Treatment Outcome
PubMed: 11806890
DOI: 10.1136/adc.86.1.60 -
Blood Cancer Journal Apr 2021
Topics: Adult; Aged; Aged, 80 and over; Female; Humans; Incidence; Male; Middle Aged; Polycythemia; Polycythemia Vera; Retrospective Studies; Thrombosis; Young Adult
PubMed: 33859172
DOI: 10.1038/s41408-021-00463-x