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]

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]

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]

JAK2 V617F mutation point was present. He was started on hydrea and aspirin. Summary of Results: Familial PV refers to rare form of polycythemia in which other family members have the same phenotypic and/or genotypic presentations. [afmr.org]

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]

• Splenomegaly

  289.52 Splenic sequestration 289.53 Neutropenic splenomegaly 289.59 Other diseases of spleen 289.7 Methemoglobinemia 289.81 Primary hypercoagulable state 289.82 Secondary hypercoagulable state 289.83 Myelofibrosis 289.84 Heparin-induced thrombocytopenia [healthprovidersdata.com]

  The hematological features include the presence of isolated erythrocytosis without evolution into leukemia or other myeloproliferative disorders, absence of splenomegaly, normal white blood cell and platelet counts, and low plasma EPO levels. [orpha.net]

  Hematologic manifestations include the presence of isolated erythrocytosis without progression to leukemia or other myeloproliferative disorders, absence of splenomegaly, normal white blood cell and platelet counts, and low levels of serum EPO (in primary [bloodgenetics.com]

• Asymptomatic

  Polycythemic subjects with high affinity Hb variant are asymptomatic with normal life expectancy. Their differentiation from polycythemia vera (PV) is crucial to avoid therapy which is otherwise reserved for PV patients. [ncbi.nlm.nih.gov]

  The affected individuals generally were asymptomatic. In contrast to polycythemia vera, splenomegaly, leukocytosis, and thrombocytosis were not observed. [annals.org]

  Some recessively and dominantly inherited cases and some sporadic cases have no known cause. [4] Familial erythrocytosis patients can be asymptomatic or associated with minor manifestations of headache, dizziness, lethargy and easy fatigability. [sjmms.net]

• Plethora

  He had headaches and marked plethora. Erythropoietin levels were not elevated. The disorder was characterized in middle age in other members of the family by hypertension, cardiovascular and thromboembolic phenomena, and abnormal bleeding. [datapunk.net]

  Clinical manifestations (present in some, but not all) were usually relatively mild (predominantly chronic headache and plethora) and relieved by phlebotomy (see Management ). [ncbi.nlm.nih.gov]

  Typical findings for polycythemia: In many children the only manifestation will be plethora. Alternatively, polycythemia may be discovered inadvertently on a routine CBC. Other symptoms may include headache, pruritus, dizziness and sweating. [clinicaladvisor.com]

  Signs of polycythemia include the following: * Rubor, especially facial rubor * Skin plethora * Hypertension, both systolic and diastolic * Hepatomegaly * Splenomegaly * Conjunctival plethora (engorged vessels in the bulbar conjunctiva) * Ecchymosis * [findmeacure.com]

• Swelling

  Features suggestive of venous thrombosis With the excess red cell mass there will be venous thrombosis as well. eg; In deep vein thrombosis patient will present with acute onset severe pain, swelling, redness and warmth of the limb[8]. [explainmedicine.com]

  A 26-year-old man presents with new-onset left lower extremity swelling and pain of 6 hours' duration. He takes no medications and has no history of trauma, immobilization, or prior thrombosis. [drsami.com]

• Pallor

  Physical examination reveals pallor and an enlarged spleen, palpable 12 cm below the left costal margin. [drsami.com]

• Dyspnea

  Clinically there is dyspnea. relative polycythemia apparent polycythemia resulting from loss of plasma and the hemoconcentration that follows. Called also spurious polycythemia. polycythemia vera see primary polycythemia (above). [medical-dictionary.thefreedictionary.com]

  Clinical features can include headache, dizziness, epistaxis and exertional dyspnea. Thrombotic events have been observed. [orpha.net]

  […] references: 1 OMIM reference - No MeSH references Very frequent - Asthenia / fatigue / weakness - Dizziness - Epistaxis / nose bleeding - Facial pain / cephalalgia / migraine - Hemoglobinosis / hemoglobinopathy - Red cell disorders - Respiratory distress / dyspnea [csbg.cnb.csic.es]

• Exertional Dyspnea

  Clinical features can include headache, dizziness, epistaxis and exertional dyspnea. Thrombotic events have been observed. [orpha.net]

  Clinical symptoms include headache, dizziness, epistaxis, and exertional dyspnea. [bloodgenetics.com]

• Thrombosis

  Features suggestive of venous thrombosis With the excess red cell mass there will be venous thrombosis as well. eg; In deep vein thrombosis patient will present with acute onset severe pain, swelling, redness and warmth of the limb[8]. [explainmedicine.com]

  In patients with an increased risk of thrombosis, previous thrombosis, peripheral vascular disease, diabetes or hypertension, venesection should be considered at Hct less than 54%. [orpha.net]

  Hemoglobin threshold for phelebotomy to lower the risk of thrombosis and cardiovascular events is yet to be defined. [dc.etsu.edu]

• Hypertension

  Secondary polycythemia may display hypoxemia in the absence of hepatosplenomegaly and hypertension. [medical-dictionary.thefreedictionary.com]

  His past medical history is significant for Polycythemia, PICC line associated clot,Type2 Diabetes, Hypertension, Epidural abscess. [dc.etsu.edu]

  Usually seen in men who are smokers, obese, and have hypertension. Primary polycythemia or absolute polycythemia, also known as Osler's Disease. One of the myeloproliferative syndromes, disorders arising at the stem cell. [quizlet.com]

  This syndrome is commonly associated with uncontrolled hypertension, inappropriate use of diuretic therapy, and obesity.[21] Emamian et al. studied 9808 hypertensive patients and concluded that the majority of those patients had spurious increase of Hb [jahjournal.org]

  In patients with an increased risk of thrombosis, previous thrombosis, peripheral vascular disease, diabetes or hypertension, venesection should be considered at Hct less than 54%. [orpha.net]

• Vascular Disease

  In patients with an increased risk of thrombosis, previous thrombosis, peripheral vascular disease, diabetes or hypertension, venesection should be considered at Hct less than 54%. [orpha.net]

  Wanless IR, Peterson P, Das A, Boitnott JK, Moore GW, Bernier V: Hepatic vascular disease and portal hypertension in polycythemia vera and agnogenic myeloid metaplasia: a clinicopathological study of 145 patients examined at autopsy. [medtextfree.wordpress.com]

• Epistaxis

  Clinical features can include headache, dizziness, epistaxis and exertional dyspnea. Thrombotic events have been observed. [orpha.net]

  […] data: Class of prevalence: unknown Average age onset: variable Average age of death: normal Type of inheritance: autosomal dominant External references: 1 OMIM reference - No MeSH references Very frequent - Asthenia / fatigue / weakness - Dizziness - Epistaxis [csbg.cnb.csic.es]

  Clinical symptoms include headache, dizziness, epistaxis, and exertional dyspnea. [bloodgenetics.com]

• Suggestibility

  Feature suggestive of chronic lung disease( eg: Chronic Obstructive Pulmonary Disease) can cause progressive ariway obstruction and poor alveolar ventialtion dyspite of good alveolar perfusion. [explainmedicine.com]

  Estimation of oxygen affinity of Hb from venous blood gas parameters (P50) revealed low P50 suggesting a high affinity Hb variant. [ncbi.nlm.nih.gov]

  For each illness these expert clinicians provide a brief review of basic concepts and a discussion of its symptomology and classification, its diagnostic tests, and strategies for its management, along with suggested readings for more detailed information [books.google.com]

  He suggested the Full Text [jamanetwork.com]

  The electrophoretic patterns of the hemoglobins of the other two families were normal, suggesting that not all inherited erythrocytosis is due to hemoglobinopathies. [annals.org]

• Headache

  Complication Familial erythrocytosis complications Complications of polycystic kidney kidney tuberculosis kidney cancer Erythrocytosis common symptoms are dizziness, headache, headache, fatigue, palpitations, insomnia, eyes afraid of hot sweating; sometimes [healthfrom.com]

  Lethargy, confusion, headache, dizziness These symptoms are due to central nervous system disturbances with hyperviscosity causing poor perfusion[3]. [explainmedicine.com]

  Here we discuss a case of Familial Polycythemia likely due to novel hemoglobin variant. 42-year Caucasian male presents to the clinic with high hemoglobin for several years but otherwise denies any symptoms of headache, vision changes, chest pain. [dc.etsu.edu]

  This may cause sluggishness, irritability, headache, dizziness, fainting, disturbances of sensation in the hands and feet, and a feeling of fullness in the head. There may be episodes of acute pain as spontaneous clots occur in the blood vessels. [medical-dictionary.thefreedictionary.com]

  Signs and symptoms of familial erythrocytosis can include headaches, dizziness, nosebleeds, and shortness of breath. [icdlist.com]

• Dizziness

  Lethargy, confusion, headache, dizziness These symptoms are due to central nervous system disturbances with hyperviscosity causing poor perfusion[3]. [explainmedicine.com]

  Symptom Familial polycythemia symptoms common symptoms irritable dizziness and headache limbs numbness Eye contact, insomnia, irritability, limb numbness and other symptoms, but most patients with symptoms are not obvious, the spleen is generally not [healthfrom.com]

  Signs and symptoms of familial erythrocytosis can include headaches, dizziness, nosebleeds, and shortness of breath. [icdlist.com]

  Symptoms of erythrocystosis include: Headaches Dizziness, Nosebleeds, Shortness of breath Erythrocytosis can sometimes lead to other more serious conditions such as polycythemia vera. [clearviewcancer.com]

  Clinical features can include headache, dizziness, epistaxis and exertional dyspnea. Thrombotic events have been observed. [orpha.net]

• Vertigo

  See also altitude sickness, erythrocytosis. observations Clinical manifestations for polycythemia include weakness and fatigue; headache and vertigo; visual disturbances (scotoma, double or blurred vision); dyspnea; nosebleeds; night sweats; and epigastric [medical-dictionary.thefreedictionary.com]

  Symptoms include headaches and vertigo. Signs on physical examination include an abnormally enlarged spleen and/or liver. [psychology.wikia.com]

  Symptoms include headaches and vertigo, and signs on physical examination include an abnormally enlarged spleen and/or liver. [en.wikipedia.org]

  Symptoms include headaches, vertigo, and an abnormally enlarged spleen and/or liver. In some cases, affected individuals may have associated conditions including high blood pressure or the formation of blood clots. [findmeacure.com]

  The chief symptoms have been weakness, prostration, constipation, headache, and vertigo.”2 The increased proliferation of granulocyte precursors and megakaryocytes was first described by Türk in 1904.3 Secondary polycythemia is a term that describes a [medtextfree.wordpress.com]

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

A patient’s travel history should be taken to determine the likelihood of high-altitude effect and thus possibly avoid having to conduct an extensive workup. [what-when-how.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]

• Erythrocytosis

  Familial erythrocytosis-2 has characteristics of both primary and secondary erythrocytosis (Prchal, 2005). Type 3 familial erythrocytosis is an autosomal dominant disorder due to mutations in the EGLN1 gene (1q42). [bloodgenetics.com]

  in addition to the familial erythrocytosis and idiopathic erythrocytosis. [6] Familial erythrocytosis was first recognized as an entity by Spodaro and Forkner [6] in 1933. [sjmms.net]

  […] hereditary erythrocytosis primary familial polycythemia Cario H. [ghr.nlm.nih.gov]

  Erythrocytosis-associated mutations in EPOR, VHL, PHD2, and HIF-2α. [haematologica.org]

• Hemoglobin Increased

  Diagnosis Diagnosis of familial erythrocytosis Patients with erythrocytosis and family history should consider the disease, hemoglobin electrophoresis found abnormal hemoglobin zone and / or hemoglobin oxygen affinity significantly increased can confirm [healthfrom.com]

  Definition: Polycythemia is the increase of the RBC count, hemoglobin, and total RBC volume, accompanied by an increase in total blood volume. [findmeacure.com]

• Hematocrit Increased

  NEUROLOGIC Central nervous system Headaches,Dizziness,Intracerebral hemorrhage LABORATORY ABNORMALITIES Low or normal serum erythropoietin INHERITANCE Autosomal dominant HEMATOLOGY Erythrocytosis,Increased red blood cell mass,Increased hematocrit,Increased [datapunk.net]

  […] red blood cell mass; Increased hematocrit; Increased hemoglobin; Normal oxygen affinity of hemoglobin; Hypersensitivity of erythroid colony-forming units to erythropoietin (EPO, 133170 ) LABORATORY ABNORMALITIES: Low or normal serum erythropoietin MISCELLANEOUS [genome.jp]

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]

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]

Ongoing controversies regarding etiology, diagnosis, treatment There is controversy about etiology, diagnosis and therapy. JAK2 mutation is sometimes absent in the peripheral cells and also in the blasts. [clinicaladvisor.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]

Primary familial and congenital polycythemia Classification (Orphanet): - Rare genetic disease - Rare hematologic disease Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism - Epidemiological [csbg.cnb.csic.es]

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]

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]

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]

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

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Erythrocytosis (ie, increased RBC mass or polycythemia) may be primary, due to an intrinsic defect of bone marrow stem cells [mayomedicallaboratories.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]

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]

| Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies Case Studies Case #1 Cost Effectiveness of Polycythemia | group5 = Clinical Trials Involving Polycythemia | list5 = Ongoing Trials on Polycythemia at Clinical [wikidoc.org]

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