Sickle Cell Disease
Sickle cell disease is caused by an alteration in a single DNA base, but its clinical manifestations are influenced by other genes and behavioral and environmental factors. Recent findings may indicate an acceleration in the discovery of interventions that alter the disease course. Sickle cell disea...
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| Veröffentlicht in: | The New England journal of medicine 2017-04, Vol.376 (16), p.1561-1573 |
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| container_title | The New England journal of medicine |
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| creator | Piel, Frédéric B Steinberg, Martin H Rees, David C |
| description | Sickle cell disease is caused by an alteration in a single DNA base, but its clinical manifestations are influenced by other genes and behavioral and environmental factors. Recent findings may indicate an acceleration in the discovery of interventions that alter the disease course.
Sickle cell disease is an increasing global health problem. Estimates suggest that every year approximately 300,000 infants are born with sickle cell anemia, which is defined as homozygosity for the sickle hemoglobin (HbS) gene (i.e., for a missense mutation [Glu6Val, rs334] in the β-globin gene [
HBB
]) and that this number could rise to 400,000 by 2050.
1
Although early diagnosis, penicillin prophylaxis, blood transfusion, transcranial Doppler imaging, hydroxyurea, and hematopoietic stem-cell transplantation can dramatically improve survival and quality of life for patients with sickle cell disease, our understanding of the role of genetic and nongenetic factors in explaining the . . . |
| doi_str_mv | 10.1056/NEJMra1510865 |
| format | Article |
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Sickle cell disease is an increasing global health problem. Estimates suggest that every year approximately 300,000 infants are born with sickle cell anemia, which is defined as homozygosity for the sickle hemoglobin (HbS) gene (i.e., for a missense mutation [Glu6Val, rs334] in the β-globin gene [
HBB
]) and that this number could rise to 400,000 by 2050.
1
Although early diagnosis, penicillin prophylaxis, blood transfusion, transcranial Doppler imaging, hydroxyurea, and hematopoietic stem-cell transplantation can dramatically improve survival and quality of life for patients with sickle cell disease, our understanding of the role of genetic and nongenetic factors in explaining the . . .</description><identifier>ISSN: 0028-4793</identifier><identifier>EISSN: 1533-4406</identifier><identifier>DOI: 10.1056/NEJMra1510865</identifier><identifier>PMID: 28423290</identifier><language>eng</language><publisher>United States: Massachusetts Medical Society</publisher><subject>Air Pollution - adverse effects ; alpha-Thalassemia - genetics ; Anemia, Sickle Cell - complications ; Anemia, Sickle Cell - epidemiology ; Anemia, Sickle Cell - genetics ; Anemia, Sickle Cell - therapy ; Deoxyribonucleic acid ; DNA ; Environmental factors ; Estimates ; Fetal Hemoglobin - physiology ; Health care access ; Hemoglobin ; High income ; Humans ; Infant, Newborn ; Infection - complications ; Life expectancy ; Medical screening ; Mortality ; Mutation ; Outdoor air quality ; Phenotype ; Quality of life ; Sickle cell anemia ; Sickle cell disease ; Stroke</subject><ispartof>The New England journal of medicine, 2017-04, Vol.376 (16), p.1561-1573</ispartof><rights>Copyright © 2017 Massachusetts Medical Society. All rights reserved.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c434t-9e8fa31fd18ee85b02e27f82d98fe47a4c3a0320b076b4ac54af80d4855b8cd63</citedby><cites>FETCH-LOGICAL-c434t-9e8fa31fd18ee85b02e27f82d98fe47a4c3a0320b076b4ac54af80d4855b8cd63</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.nejm.org/doi/pdf/10.1056/NEJMra1510865$$EPDF$$P50$$Gmms$$H</linktopdf><linktohtml>$$Uhttps://www.nejm.org/doi/full/10.1056/NEJMra1510865$$EHTML$$P50$$Gmms$$H</linktohtml><link.rule.ids>314,776,780,2746,2747,26080,27901,27902,52357,54039</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/28423290$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><contributor>Longo, Dan L</contributor><creatorcontrib>Piel, Frédéric B</creatorcontrib><creatorcontrib>Steinberg, Martin H</creatorcontrib><creatorcontrib>Rees, David C</creatorcontrib><title>Sickle Cell Disease</title><title>The New England journal of medicine</title><addtitle>N Engl J Med</addtitle><description>Sickle cell disease is caused by an alteration in a single DNA base, but its clinical manifestations are influenced by other genes and behavioral and environmental factors. Recent findings may indicate an acceleration in the discovery of interventions that alter the disease course.
Sickle cell disease is an increasing global health problem. Estimates suggest that every year approximately 300,000 infants are born with sickle cell anemia, which is defined as homozygosity for the sickle hemoglobin (HbS) gene (i.e., for a missense mutation [Glu6Val, rs334] in the β-globin gene [
HBB
]) and that this number could rise to 400,000 by 2050.
1
Although early diagnosis, penicillin prophylaxis, blood transfusion, transcranial Doppler imaging, hydroxyurea, and hematopoietic stem-cell transplantation can dramatically improve survival and quality of life for patients with sickle cell disease, our understanding of the role of genetic and nongenetic factors in explaining the . . .</description><subject>Air Pollution - adverse effects</subject><subject>alpha-Thalassemia - genetics</subject><subject>Anemia, Sickle Cell - complications</subject><subject>Anemia, Sickle Cell - epidemiology</subject><subject>Anemia, Sickle Cell - genetics</subject><subject>Anemia, Sickle Cell - therapy</subject><subject>Deoxyribonucleic acid</subject><subject>DNA</subject><subject>Environmental factors</subject><subject>Estimates</subject><subject>Fetal Hemoglobin - physiology</subject><subject>Health care access</subject><subject>Hemoglobin</subject><subject>High income</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Infection - complications</subject><subject>Life expectancy</subject><subject>Medical screening</subject><subject>Mortality</subject><subject>Mutation</subject><subject>Outdoor air quality</subject><subject>Phenotype</subject><subject>Quality of life</subject><subject>Sickle cell anemia</subject><subject>Sickle cell disease</subject><subject>Stroke</subject><issn>0028-4793</issn><issn>1533-4406</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BEC</sourceid><sourceid>BENPR</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNp10E1LAzEQBuAgiq3Vk3gVQQQvq5Ov3eQotX5R9aCeQzY7ga273Zp0D_57U1oFBecyl4eXmZeQIwoXFGR--TR5eAyWSgoql1tkSCXnmRCQb5MhAFOZKDQfkL0YZ5CGCr1LBkwJxpmGITl8qd17gydjbJqT6zqijbhPdrxtIh5s9oi83Uxex3fZ9Pn2fnw1zZzgYplpVN5y6iuqEJUsgSErvGKVVh5FYYXjFjiDEoq8FNZJYb2CSigpS-WqnI_I-Tp3EbqPHuPStHV06RA7x66PhiqdvtJKrejpHzrr-jBP160UMC7yokgqWysXuhgDerMIdWvDp6FgVm2ZX20lf7xJ7csWqx_9XU8CZ2vQttHMcdb-E_QF75xs-w</recordid><startdate>20170420</startdate><enddate>20170420</enddate><creator>Piel, Frédéric B</creator><creator>Steinberg, Martin H</creator><creator>Rees, David C</creator><general>Massachusetts Medical Society</general><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>0TZ</scope><scope>7RV</scope><scope>7X7</scope><scope>7XB</scope><scope>8AO</scope><scope>8C1</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>ABUWG</scope><scope>AEUYN</scope><scope>AFKRA</scope><scope>AN0</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BEC</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>HCIFZ</scope><scope>K0Y</scope><scope>LK8</scope><scope>M0R</scope><scope>M0T</scope><scope>M1P</scope><scope>M2M</scope><scope>M2O</scope><scope>M2P</scope><scope>M7P</scope><scope>MBDVC</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PSYQQ</scope><scope>Q9U</scope><scope>7X8</scope></search><sort><creationdate>20170420</creationdate><title>Sickle Cell Disease</title><author>Piel, Frédéric B ; 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Recent findings may indicate an acceleration in the discovery of interventions that alter the disease course.
Sickle cell disease is an increasing global health problem. Estimates suggest that every year approximately 300,000 infants are born with sickle cell anemia, which is defined as homozygosity for the sickle hemoglobin (HbS) gene (i.e., for a missense mutation [Glu6Val, rs334] in the β-globin gene [
HBB
]) and that this number could rise to 400,000 by 2050.
1
Although early diagnosis, penicillin prophylaxis, blood transfusion, transcranial Doppler imaging, hydroxyurea, and hematopoietic stem-cell transplantation can dramatically improve survival and quality of life for patients with sickle cell disease, our understanding of the role of genetic and nongenetic factors in explaining the . . .</abstract><cop>United States</cop><pub>Massachusetts Medical Society</pub><pmid>28423290</pmid><doi>10.1056/NEJMra1510865</doi><tpages>13</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Air Pollution - adverse effects alpha-Thalassemia - genetics Anemia, Sickle Cell - complications Anemia, Sickle Cell - epidemiology Anemia, Sickle Cell - genetics Anemia, Sickle Cell - therapy Deoxyribonucleic acid DNA Environmental factors Estimates Fetal Hemoglobin - physiology Health care access Hemoglobin High income Humans Infant, Newborn Infection - complications Life expectancy Medical screening Mortality Mutation Outdoor air quality Phenotype Quality of life Sickle cell anemia Sickle cell disease Stroke |
| title | Sickle Cell Disease |
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