Eg; In cardiac complications, patient will present with chest pain, difficulty in bresthing, dizziness, sweating and other features of myocardial infarction/ angina[4]. [explainmedicine.com]

This is a previously unreported beta chain hemoglobin variant present. This hemoglobin variant is named as Hemoglobin Hyden based on the place where this is found in Hyden, Kentucky. [dc.etsu.edu]

A seven basepair direct repeat sequence is present in the normal EpoR gene at the site of this mutation, consistent with the slipped mispairing model for the generation of short deletions during DNA replication. [ncbi.nlm.nih.gov]

Only in one family was more than one sibling affected with any malignancy; in family 2 a brother presented with renal cancer at age 58 years and a sister with breast cancer at age 55 years. In family 4, mother presented with PV and father with CML. [nature.com]

Clinical description The hematological disorder is present at birth but the clinical symptoms, if they develop, can be discovered at any time during childhood or adulthood. [orpha.net]

However, it has never been shown that an exhaustive workup for malignancy is cost-effective or beneficial. [drsami.com]

Confirming a high hemoglobin and hematcrit level is imperative before embarking on a major workup for polycythemia since a high value may return to normal without any intervention. [clinicaladvisor.com]

[…] can be established by the assessment of erythrocyte NADH-reductase (Cb5R) activity and Hb electrophoresis followed by DNA mutational analysis for Cb5R gene and sequencing for both α and β chains.[41] Diagnostic Approach During the initial diagnostic workup [jahjournal.org]

Treatment Treatment of familial polycythemia Department of Internal Medicine: Department of Hematology Treatment: symptomatic treatment Treatment cycle: the disease can be repeated, so the treatment cycle is not clear Cure rate: symptomatic treatment, [healthfrom.com]

Ayalew Tefferi, MD, and a team of authoritative practicing physicians concisely detail their most effective approaches to the diagnosis and treatment of a wide variety of hematological disorders, including anemia and other cytopenias, primary and secondary [books.google.com]

Research on treatment modalities is ongoing. [medical-dictionary.thefreedictionary.com]

Causes and classification of hereditary family erythrocytosis Symptoms of hereditary family erythrocytosis Diagnosis of hereditary family erythrocytosis Treatment and prognosis of hereditary family erythrocytosis Hereditary familial polycythemia - treatment [medicalformat.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Prognosis Primary familial polycythemia does not necessarily carry an adverse prognosis in early life and most patients have a benign clinical course, but it is associated with an increased risk of thrombosis and vascular mortality in later life. [orpha.net]

It is hoped that greater knowledge of prognosis may be obtained by further observations of these patients. Received May 28, 1957. Accepted July 25, 1957. [pediatrics.aappublications.org]

Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. [icd10coded.com]

Introduction Etiology Prevention Complication Symptom Examine Diagnosis Treatment Basic Nursing Introduction Introduction to familial erythrocytosis Oxygen affinity increased hemoglobin, due to changes in amino acid composition of hemoglobin, so that [healthfrom.com]

There are two distinct forms of the disease: Primary polycythemia (polycythemia vera) is a myeloproliferative disorder of unknown etiology. [medical-dictionary.thefreedictionary.com]

Etiology Primary familial polycythemia is caused by mutations in the EPO receptor ( EPOR ) gene (19p13.3-p13.2) resulting in hypersensitivity to EPO. [orpha.net]

Only case reports, but no analytical epidemiological studies on familial aggregation of PV, are available. 2, 3, 4 The case reports included parent–child pairs of PV. [nature.com]

Summary Epidemiology Prevalence is unknown. Clinical description The hematological disorder is present at birth but the clinical symptoms, if they develop, can be discovered at any time during childhood or adulthood. [orpha.net]

Balances summaries of relevant pathophysiology with clear, practical clinical guidance to help you thoroughly understand the underlying science of diseases. [books.google.com]

To search for EPO-receptor changes as a possible pathophysiologic mechanism, we examined, by Southern blot analysis, genomic DNA samples from affected and nonaffected family members, as well as three patients with PV. [ashpublications.org]

Pathophysiology of anemia and erythrocytosis. Crit Rev Oncol Hematol. 2007 Nov;64(2):139-58. Epub 2007 Jul 25. Review. Huang LJ, Shen YM, Bulut GB. Advances in understanding the pathogenesis of primary familial and congenital polycythaemia. [ghr.nlm.nih.gov]

packed cell volume increased, PCV increased, primary familial and congenital polycythemia, PFCP, familial erythrocytosis, hereditary erythrocytosis, congenital erythrocytosis, inherited erythrocytosis Overview Historical Perspective Classification Pathophysiology [wikidoc.org]

Until recently, the pathophysiology of polycythemia vera was unclear. [findmeacure.com]

Prevention Prevention of familial polycythemia The disease no effective preventive measures, early detection of early diagnosis is the key to prevention and treatment of this disease. [healthfrom.com]

0% Emergent - ED Care Needed - Preventable/Avoidable - 0% Emergent - ED Care Needed - Not Preventable/Avoidable - 0% Primary diagnosis of injury 0% Primary diagnosis of mental health problems 0% Primary diagnosis of substance abuse 0% Primary diagnosis [medicbind.com]

Prevention of hereditary family erythrocytosis As with many other genetic diseases, a clear system of prevention of hereditary erythrocytosis family does not exist. For some forms of prenatal genetic diagnosis is possible. [medicalformat.com]

Blood disorders affect one or more parts of the blood and prevent your blood from doing its job. They can be acute or chronic. Many blood disorders are inherited. [icdlist.com]

A greater understanding of the predisposing genes and mutations could lead to new ways of treating and preventing PV. [oncologynurseadvisor.com]