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Autosomal dominant polycythemia

Two families with polycythemia inherited as an autosomal dominant trait are described. Serial hemoglobin determinations in multiple family members and RBC volume measurements in selected affected subjects documented their polycythemia. Measurements of arterial p02s, p50s, and blood oxygen affinity w...

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Published in:	Blood 1985-11, Vol.66 (5), p.1208-1214
Main Authors:	Prchal, JT, Crist, WM, Goldwasser, E, Perrine, G, Prchal, JF
Format:	Article
Language:	English
Subjects:	Adenosine Triphosphate - blood Adolescent Adult Anemias. Hemoglobinopathies Biological and medical sciences Child Child, Preschool Chromosome Aberrations - diagnosis Chromosome Disorders Diphosphoglyceric Acids - blood Diseases of red blood cells Erythrocyte Indices Erythropoietin - analysis Female Hematologic and hematopoietic diseases Hemoglobins Humans Male Medical sciences Middle Aged Pedigree Polycythemia - genetics
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container_issue	5
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container_title	Blood
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creator	Prchal, JT Crist, WM Goldwasser, E Perrine, G Prchal, JF
description	Two families with polycythemia inherited as an autosomal dominant trait are described. Serial hemoglobin determinations in multiple family members and RBC volume measurements in selected affected subjects documented their polycythemia. Measurements of arterial p02s, p50s, and blood oxygen affinity were normal in all affected individuals from each family who were tested. Erythropoietin (EPO) levels were low in affected individuals from family 1 and normal in affected members of family 2. Stimulation of in vitro CFU-E colony growth by low levels of EPO was significantly increased in subjects from family 1, but normal in those affected from family 2. We conclude that although the inheritance pattern for the polycythemia in both of these families appeared to be the same, the biologic defect leading to the disorder in each of these unique families was different. The precise mechanism of the increased EPO sensitivity noted in affected subjects from family 1 awaits elucidation.
doi_str_mv	10.1182/blood.V66.5.1208.1208
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Serial hemoglobin determinations in multiple family members and RBC volume measurements in selected affected subjects documented their polycythemia. Measurements of arterial p02s, p50s, and blood oxygen affinity were normal in all affected individuals from each family who were tested. Erythropoietin (EPO) levels were low in affected individuals from family 1 and normal in affected members of family 2. Stimulation of in vitro CFU-E colony growth by low levels of EPO was significantly increased in subjects from family 1, but normal in those affected from family 2. We conclude that although the inheritance pattern for the polycythemia in both of these families appeared to be the same, the biologic defect leading to the disorder in each of these unique families was different. The precise mechanism of the increased EPO sensitivity noted in affected subjects from family 1 awaits elucidation.</description><identifier>ISSN: 0006-4971</identifier><identifier>EISSN: 1528-0020</identifier><identifier>DOI: 10.1182/blood.V66.5.1208.1208</identifier><identifier>PMID: 4052634</identifier><language>eng</language><publisher>Washington, DC: Elsevier Inc</publisher><subject>Adenosine Triphosphate - blood ; Adolescent ; Adult ; Anemias. 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Serial hemoglobin determinations in multiple family members and RBC volume measurements in selected affected subjects documented their polycythemia. Measurements of arterial p02s, p50s, and blood oxygen affinity were normal in all affected individuals from each family who were tested. Erythropoietin (EPO) levels were low in affected individuals from family 1 and normal in affected members of family 2. Stimulation of in vitro CFU-E colony growth by low levels of EPO was significantly increased in subjects from family 1, but normal in those affected from family 2. We conclude that although the inheritance pattern for the polycythemia in both of these families appeared to be the same, the biologic defect leading to the disorder in each of these unique families was different. The precise mechanism of the increased EPO sensitivity noted in affected subjects from family 1 awaits elucidation.</description><subject>Adenosine Triphosphate - blood</subject><subject>Adolescent</subject><subject>Adult</subject><subject>Anemias. Hemoglobinopathies</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Chromosome Aberrations - diagnosis</subject><subject>Chromosome Disorders</subject><subject>Diphosphoglyceric Acids - blood</subject><subject>Diseases of red blood cells</subject><subject>Erythrocyte Indices</subject><subject>Erythropoietin - analysis</subject><subject>Female</subject><subject>Hematologic and hematopoietic diseases</subject><subject>Hemoglobins</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Pedigree</subject><subject>Polycythemia - genetics</subject><issn>0006-4971</issn><issn>1528-0020</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1985</creationdate><recordtype>article</recordtype><recordid>eNqFkMtOwzAQRS0EKqXwCRVdIHYJfttZIVTxkiqxAbaW40yEURIXO0Hq35M-1C2bmcWcOzM6CM0JzgnR9K5sQqjyTylzkROK9a6coCkRVGcYU3yKphhjmfFCkXN0kdI3xoQzKiZowrGgkvEpun4Y-pBCa5tFFVrf2a5frEOzcZv-C1pvL9FZbZsEV4c-Qx9Pj-_Ll2z19vy6fFhljkndZ7LGQGpWVVASDpTjmsrCQV0UFiQ4RqkTmJZEgCq4ZlowrBwrnGSEKkU0m6Hb_d51DD8DpN60PjloGttBGJJRkpNxJR9BsQddDClFqM06-tbGjSHYbMWYnRgzijHCbJ3sypibHw4MZQvVMXUwMc5vDnObnG3qaDvn0xHTQioi1Yjd7zEYZfx6iCY5D52DykdwvamC_-eRP8MagGk</recordid><startdate>198511</startdate><enddate>198511</enddate><creator>Prchal, JT</creator><creator>Crist, WM</creator><creator>Goldwasser, E</creator><creator>Perrine, G</creator><creator>Prchal, JF</creator><general>Elsevier Inc</general><general>The Americain Society of Hematology</general><scope>6I.</scope><scope>AAFTH</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>198511</creationdate><title>Autosomal dominant polycythemia</title><author>Prchal, JT ; Crist, WM ; Goldwasser, E ; Perrine, G ; Prchal, JF</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c368t-6f0e1f3ddeb14e240f269cef99ae6ec322c502b15e7948385307c39c631277183</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1985</creationdate><topic>Adenosine Triphosphate - blood</topic><topic>Adolescent</topic><topic>Adult</topic><topic>Anemias. Hemoglobinopathies</topic><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Chromosome Aberrations - diagnosis</topic><topic>Chromosome Disorders</topic><topic>Diphosphoglyceric Acids - blood</topic><topic>Diseases of red blood cells</topic><topic>Erythrocyte Indices</topic><topic>Erythropoietin - analysis</topic><topic>Female</topic><topic>Hematologic and hematopoietic diseases</topic><topic>Hemoglobins</topic><topic>Humans</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Pedigree</topic><topic>Polycythemia - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Prchal, JT</creatorcontrib><creatorcontrib>Crist, WM</creatorcontrib><creatorcontrib>Goldwasser, E</creatorcontrib><creatorcontrib>Perrine, G</creatorcontrib><creatorcontrib>Prchal, JF</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Blood</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Prchal, JT</au><au>Crist, WM</au><au>Goldwasser, E</au><au>Perrine, G</au><au>Prchal, JF</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Autosomal dominant polycythemia</atitle><jtitle>Blood</jtitle><addtitle>Blood</addtitle><date>1985-11</date><risdate>1985</risdate><volume>66</volume><issue>5</issue><spage>1208</spage><epage>1214</epage><pages>1208-1214</pages><issn>0006-4971</issn><eissn>1528-0020</eissn><abstract>Two families with polycythemia inherited as an autosomal dominant trait are described. Serial hemoglobin determinations in multiple family members and RBC volume measurements in selected affected subjects documented their polycythemia. Measurements of arterial p02s, p50s, and blood oxygen affinity were normal in all affected individuals from each family who were tested. Erythropoietin (EPO) levels were low in affected individuals from family 1 and normal in affected members of family 2. Stimulation of in vitro CFU-E colony growth by low levels of EPO was significantly increased in subjects from family 1, but normal in those affected from family 2. We conclude that although the inheritance pattern for the polycythemia in both of these families appeared to be the same, the biologic defect leading to the disorder in each of these unique families was different. The precise mechanism of the increased EPO sensitivity noted in affected subjects from family 1 awaits elucidation.</abstract><cop>Washington, DC</cop><pub>Elsevier Inc</pub><pmid>4052634</pmid><doi>10.1182/blood.V66.5.1208.1208</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record>
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subjects	Adenosine Triphosphate - blood Adolescent Adult Anemias. Hemoglobinopathies Biological and medical sciences Child Child, Preschool Chromosome Aberrations - diagnosis Chromosome Disorders Diphosphoglyceric Acids - blood Diseases of red blood cells Erythrocyte Indices Erythropoietin - analysis Female Hematologic and hematopoietic diseases Hemoglobins Humans Male Medical sciences Middle Aged Pedigree Polycythemia - genetics
title	Autosomal dominant polycythemia
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