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Heart (British Cardiac Society) Apr 1998
Topics: Adult; Blood Viscosity; Cerebrovascular Disorders; Contraindications; Cyanosis; Heart Defects, Congenital; Hematocrit; Humans; Phlebotomy; Polycythemia
PubMed: 9616333
DOI: 10.1136/hrt.79.4.315 -
Annals of Hematology Mar 2005Polycythemias or erythrocytoses in childhood and adolescence are very rare. Systematic data on the clinical presentation and laboratory evaluations as well as on... (Review)
Review
Polycythemias or erythrocytoses in childhood and adolescence are very rare. Systematic data on the clinical presentation and laboratory evaluations as well as on treatment regimens are sparse. The diagnostic program in absolute erythrocytosis includes extensive clinical, hematological, biochemical, and molecular biological examinations which should be applied following a stepwise algorithm. Absolute erythrocytoses are usually subdivided into primary and secondary forms. Primary erythrocytosis is a condition in which the erythropoietic compartment is expanding independently of extrinsic influences or by responding inadequately to them. Primary erythrocytoses include primary familial and congenital polycythemia (PFCP) due to mutations of the erythropoietin (Epo) receptor gene and the myeloproliferative disorder polycythemia vera. Secondary erythrocytoses are driven by hormonal factors (predominantly by Epo) extrinsic to the erythroid compartment. The increased Epo secretion may represent either a physiologic response to tissue hypoxia, an abnormal autonomous Epo production, or a dysregulation of the oxygen-dependent Epo synthesis. Congenital secondary erythrocytoses are caused, e.g., by hemoglobin variants with increased oxygen affinity, by 2,3-bisphosphoglycerate deficiency, or by mutations in the von Hippel-Lindau gene associated with a disturbed oxygen-dependent regulation of Epo synthesis.
Topics: Algorithms; Child; Clinical Laboratory Techniques; Genetic Predisposition to Disease; Humans; Polycythemia
PubMed: 15599750
DOI: 10.1007/s00277-004-0985-1 -
Molecules (Basel, Switzerland) Sep 2012Seabuckthorn (Hippophae rhamnoides L.) has been used to treat high altitude diseases. The effects of five-week treatment with total flavonoids of seabuckthorn (35, 70,...
Seabuckthorn (Hippophae rhamnoides L.) has been used to treat high altitude diseases. The effects of five-week treatment with total flavonoids of seabuckthorn (35, 70, 140 mg/kg, ig) on cobalt chloride (5.5 mg/kg, ip)- and hypobaric chamber (simulating 5,000 m)-induced high-altitude polycythemia in rats were measured. Total flavonoids decreased red blood cell number, hemoglobin, hematocrit, mean corpuscular hemoglobin levels, span of red blood cell electrophoretic mobility, aggregation index of red blood cell, plasma viscosity, whole blood viscosity, and increased deformation index of red blood cell, erythropoietin level in serum. Total flavonoids increased pH, pO₂, Sp(O₂), pCO₂ levels in arterial blood, and increased Na⁺, HCO₃⁻, Cl⁻, but decreased K⁺ concentrations. Total flavonoids increased mean arterial pressure, left ventricular systolic pressure, end-diastolic pressure, maximal rate of rise and decrease, decreased heart rate and protected right ventricle morphology. Changes in hemodynamic, hematologic parameters, and erythropoietin content suggest that administration of total flavonoids from seabuckthorn may be useful in the prevention of high altitude polycythaemia in rats.
Topics: Altitude; Altitude Sickness; Animals; Blood Gas Analysis; Disease Models, Animal; Erythrocyte Indices; Erythropoietin; Flavonoids; Heart Ventricles; Hemodynamics; Hippophae; Male; Polycythemia; Protective Agents; Rats; Rats, Wistar
PubMed: 23023684
DOI: 10.3390/molecules171011585 -
American Journal of Diseases of... Apr 1967
Topics: Blood Cell Count; Blood Volume Determination; Child; Child, Preschool; Erythropoietin; Female; Hematocrit; Hemoglobins; Humans; Hypertension, Pulmonary; Male; Polycythemia
PubMed: 6023479
DOI: 10.1001/archpedi.1967.02090190119014 -
Journal of Clinical Pathology Dec 1973
Topics: Diagnosis, Differential; Hematocrit; Hematopoiesis; Humans; Plasma Volume; Polycythemia; Polycythemia Vera; Splenomegaly
PubMed: 4784517
DOI: 10.1136/jcp.26.12.987-a -
Lancet (London, England) Oct 1987
Topics: Female; Hemoglobins; Humans; Male; Polycythemia; Smoking
PubMed: 2889935
DOI: 10.1016/s0140-6736(87)92591-8 -
The Journal of Obstetrics and... Jun 1961
Topics: Female; Humans; Leiomyoma; Polycythemia; Uterine Neoplasms
PubMed: 13769522
DOI: 10.1111/j.1471-0528.1961.tb02762.x -
Thorax Oct 2016
Topics: Blood Gas Analysis; Hemoglobins; Humans; Male; Middle Aged; Polycythemia; Smoking Cessation; Tobacco Use Disorder
PubMed: 27388485
DOI: 10.1136/thoraxjnl-2016-208610 -
Clinical and Laboratory Haematology Oct 1999The term 'erythrocytosis' has advantages over 'polycythaemia' to describe patients with a raised haematocrit (PCV) and deserves to be more widely used. Measurement of... (Review)
Review
The term 'erythrocytosis' has advantages over 'polycythaemia' to describe patients with a raised haematocrit (PCV) and deserves to be more widely used. Measurement of red cell mass (RCM) and its relation to that expected for an individual's height and weight permits initial subdivision of erythrocytosis into absolute (increased RCM) or apparent normal RCM. Absolute erythrocytosis may be primary (intrinsically abnormal marrow erythropoiesis) or secondary (increased erythropoietin drive in response to pathological events outside the bone marrow). Both primary and secondary erythrocytosis may be either congenital or acquired. Idiopathic erythrocytosis is a third, probably heterogenous, group within the absolute erythrocytoses. Familial abnormalities of the erythropoietin receptor underlie the primary congenital subgroup. Polycythaemia vera (PV), the clonal myeloproliferative disorder, is so far, the only primary acquired disorder. Newer diagnostic investigations such as serum erythropoietin estimation, improved karyotypic analysis, in vitro culture of erythroid colonies and estimation of spleen size before splenomegaly is palpable, have permitted some modification of the traditional diagnostic criteria of polycythaemia vera. This may allow more confident diagnosis and, together with improved testing for causes of secondary erythrocytosis, may reduce the number of patients so far unsatisfactorily consigned to the idiopathic erythrocytosis group.
Topics: Humans; Polycythemia
PubMed: 10646073
DOI: 10.1046/j.1365-2257.1999.00246.x -
American Journal of Human Genetics Aug 2003The von Hippel-Lindau (pVHL) protein plays an important role in hypoxia sensing. It binds to the hydroxylated hypoxia-inducible factor 1 alpha (HIF-1 alpha) and serves...
The von Hippel-Lindau (pVHL) protein plays an important role in hypoxia sensing. It binds to the hydroxylated hypoxia-inducible factor 1 alpha (HIF-1 alpha) and serves as a recognition component of an E3-ubiquitin ligase complex. In hypoxia or secondary to a mutated VHL gene, the nondegraded HIF-1 alpha forms a heterodimer with HIF-beta and leads to increased transcription of hypoxia-inducible genes, including erythropoietin (EPO). The autosomal dominant cancer-predisposition von Hippel-Lindau (VHL) syndrome is due to inheritance of a single mutated allele of VHL. In contrast, we recently showed that homozygous germline 598C-->T VHL mutation leads to Chuvash polycythemia (CP). We subsequently found VHL mutations in three unrelated individuals unaffected with CP, one of whom was compound heterozygous for the 598C-->T mutation and another VHL mutation. We now report seven additional polycythemic patients with VHL mutations in both alleles. Two Danish siblings and another American boy were homozygous for the VHL 598C-->T mutation. Three unrelated white Americans were compound heterozygotes for 598C-->T and another VHL mutation, 562C-->G in two and 574C-->T in the third. Additionally, a Croatian boy was homozygous for a 571C-->G VHL mutation, the first example of homozygous VHL germline mutation causing polycythemia, other than the VHL 598C-->T mutation. We have not observed VHL syndrome-associated tumors in polycythemic subjects or their heterozygous relatives; however, this will need to be evaluated by longitudinal studies. Over all, we found that up to half of the consecutive patients with apparent congenital polycythemia and increased serum Epo we have examined have mutations of both VHL alleles. Those findings, along with reports of CP, underscore that VHL mutations are the most frequent cause of congenital polycythemia and define a new class of polycythemic disorder, polycythemias due to augmented hypoxia sensing.
Topics: Adolescent; Adult; Alleles; Base Sequence; Child; DNA; DNA Mutational Analysis; Female; Genes, Tumor Suppressor; Heterozygote; Homozygote; Humans; Hypoxia; Hypoxia-Inducible Factor 1, alpha Subunit; Ligases; Macromolecular Substances; Male; Models, Molecular; Mutation; Pedigree; Polycythemia; Transcription Factors; Tumor Suppressor Proteins; Ubiquitin-Protein Ligases; Von Hippel-Lindau Tumor Suppressor Protein
PubMed: 12844285
DOI: 10.1086/377108