Sickle-cell disease historical perspective: Difference between revisions
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{{Sickle-cell disease}} | {{Sickle-cell disease}} | ||
{{CMG}}; {{AE}} {{AN}} | {{CMG}}; {{AE}} {{AN}}, {{shyam}} | ||
==Overview== | ==Overview== | ||
Sickle-cell disease was first discovered by [[James Herrick]], an American cardiologist and professor of medicine, in 1910 following presentation by his intern Ernest Irons. In 1922, the phrase, "sickle-cell anemia," was first used by Verne Mason, M.D. at Johns Hopkins University to describe the shape of the red blood cells. | |||
==Historical Perspective== | ==Historical Perspective== | ||
*In 1846, a paper in the Southern Journal of Medical Pharmacology described [[asplenia]] in the [[autopsy]] of a runaway slave. | |||
*In the 1870s, African medical literature reported this condition locally as "ogbanjes" ('children who come and go') because of the very high infant mortality in this condition. Further familial history within the paper traces reports of the condition back to 1670 in one Ghanaian family.<ref>Konotey-Ahulu FID. Effect of environment on sickle cell disease in West Africa: epidemiologic and clinical considerations. In: Sickle Cell Disease, Diagnosis, Management, Education and Research. Abramson H, Bertles JF, Wethers DL, eds. CV Mosby Co, St. Louis. 1973; 20; cited in {{cite journal|last=Desai|first=D. V.|coauthors=Hiren Dhanani|year=2004|title=Sickle Cell Disease: History And Origin|url=http://www.ispub.com/ostia/index.php?xmlFilePath=journals/ijhe/vol1n2/sickle.xml|journal=The Internet Journal of Hematology|issn=1540-2649|volume=1|issue=2|pages=|doi=}}</ref> | |||
*Sickle-cell disease was first discovered by [[James Herrick]], an American cardiologist and professor of medicine, in 1910, following presentation by his intern Ernest Irons. Irons found "peculiar elongated and sickle shaped" cells in the [[blood]] of Walter Clement Noel, a 20 year old first year dental student from Grenada, after Noel was admitted to the [[Presbyterian Hospital]] in December 1904 suffering from [[anemia]]. The title of James Herrick's manuscript used the term "sickle-shape red blood corpuscles."<ref name="pmid21554552">{{cite journal| author=Kato GJ| title=Priapism in sickle-cell disease: a hematologist's perspective. | journal=J Sex Med | year= 2012 | volume= 9 | issue= 1 | pages= 70-8 | pmid=21554552 | doi=10.1111/j.1743-6109.2011.02287.x | pmc=3253142 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21554552 }} </ref> | |||
*In 1922, the phrase, "sickle-cell anemia," was first used by Verne Mason, M.D. at Johns Hopkins University to describe the shape of the red blood cells. | |||
*In 1939, the first report of priapism associated with sickle-cell disease was made.<ref name="pmid21554552">{{cite journal| author=Kato GJ| title=Priapism in sickle-cell disease: a hematologist's perspective. | journal=J Sex Med | year= 2012 | volume= 9 | issue= 1 | pages= 70-8 | pmid=21554552 | doi=10.1111/j.1743-6109.2011.02287.x | pmc=3253142 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21554552 }} </ref> | |||
*In 1949, [[Linus Pauling]] discovered sickle-cell disease was associated with an alteration of [[hemoglobin]]. This was the first time a genetic disease was linked to a mutation of a specific protein, a milestone in the [[history of molecular biology]], based on the abnormal migration of sickled hemoglobin on electrophoresis.<ref name="pmid21554552">{{cite journal| author=Kato GJ| title=Priapism in sickle-cell disease: a hematologist's perspective. | journal=J Sex Med | year= 2012 | volume= 9 | issue= 1 | pages= 70-8 | pmid=21554552 | doi=10.1111/j.1743-6109.2011.02287.x | pmc=3253142 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21554552 }} </ref> | |||
The origin of the mutation that led to the sickle cell gene was initially thought to be in the Arabian peninsula, spreading to Asia and Africa. It is now known, from evaluation of chromosome structures, that there have been at least four independent mutational events, three in Africa and a fourth in either Saudi Arabia or central India.<ref>{{cite journal|last=Desai|first=D. V.|coauthors=Hiren Dhanani|year=2004|title=Sickle Cell Disease: History And Origin|url=http://www.ispub.com/ostia/index.php?xmlFilePath=journals/ijhe/vol1n2/sickle.xml|journal=The Internet Journal of Hematology|issn=1540-2649|volume=1|issue=2|pages=|doi=}}</ref> These independent events occurred between 3,000 and 6,000 generations ago, approximately 70,000-150,000 years. | *The origin of the mutation that led to the sickle cell gene was initially thought to be in the Arabian peninsula, spreading to Asia and Africa. It is now known, from evaluation of chromosome structures, that there have been at least four independent mutational events, three in Africa and a fourth in either Saudi Arabia or central India.<ref>{{cite journal|last=Desai|first=D. V.|coauthors=Hiren Dhanani|year=2004|title=Sickle Cell Disease: History And Origin|url=http://www.ispub.com/ostia/index.php?xmlFilePath=journals/ijhe/vol1n2/sickle.xml|journal=The Internet Journal of Hematology|issn=1540-2649|volume=1|issue=2|pages=|doi=}}</ref> These independent events occurred between 3,000 and 6,000 generations ago, approximately between 70,000-150,000 years. | ||
==References== | ==References== | ||
Latest revision as of 19:51, 17 October 2016
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2], Shyam Patel [3]
Overview
Sickle-cell disease was first discovered by James Herrick, an American cardiologist and professor of medicine, in 1910 following presentation by his intern Ernest Irons. In 1922, the phrase, "sickle-cell anemia," was first used by Verne Mason, M.D. at Johns Hopkins University to describe the shape of the red blood cells.
Historical Perspective
- In 1846, a paper in the Southern Journal of Medical Pharmacology described asplenia in the autopsy of a runaway slave.
- In the 1870s, African medical literature reported this condition locally as "ogbanjes" ('children who come and go') because of the very high infant mortality in this condition. Further familial history within the paper traces reports of the condition back to 1670 in one Ghanaian family.[1]
- Sickle-cell disease was first discovered by James Herrick, an American cardiologist and professor of medicine, in 1910, following presentation by his intern Ernest Irons. Irons found "peculiar elongated and sickle shaped" cells in the blood of Walter Clement Noel, a 20 year old first year dental student from Grenada, after Noel was admitted to the Presbyterian Hospital in December 1904 suffering from anemia. The title of James Herrick's manuscript used the term "sickle-shape red blood corpuscles."[2]
- In 1922, the phrase, "sickle-cell anemia," was first used by Verne Mason, M.D. at Johns Hopkins University to describe the shape of the red blood cells.
- In 1939, the first report of priapism associated with sickle-cell disease was made.[2]
- In 1949, Linus Pauling discovered sickle-cell disease was associated with an alteration of hemoglobin. This was the first time a genetic disease was linked to a mutation of a specific protein, a milestone in the history of molecular biology, based on the abnormal migration of sickled hemoglobin on electrophoresis.[2]
- The origin of the mutation that led to the sickle cell gene was initially thought to be in the Arabian peninsula, spreading to Asia and Africa. It is now known, from evaluation of chromosome structures, that there have been at least four independent mutational events, three in Africa and a fourth in either Saudi Arabia or central India.[3] These independent events occurred between 3,000 and 6,000 generations ago, approximately between 70,000-150,000 years.
References
- ↑ Konotey-Ahulu FID. Effect of environment on sickle cell disease in West Africa: epidemiologic and clinical considerations. In: Sickle Cell Disease, Diagnosis, Management, Education and Research. Abramson H, Bertles JF, Wethers DL, eds. CV Mosby Co, St. Louis. 1973; 20; cited in Desai, D. V. (2004). "Sickle Cell Disease: History And Origin". The Internet Journal of Hematology. 1 (2). ISSN 1540-2649. Unknown parameter
|coauthors=ignored (help) - ↑ 2.0 2.1 2.2 Kato GJ (2012). "Priapism in sickle-cell disease: a hematologist's perspective". J Sex Med. 9 (1): 70–8. doi:10.1111/j.1743-6109.2011.02287.x. PMC 3253142. PMID 21554552.
- ↑ Desai, D. V. (2004). "Sickle Cell Disease: History And Origin". The Internet Journal of Hematology. 1 (2). ISSN 1540-2649. Unknown parameter
|coauthors=ignored (help)