Sickle-cell disease historical perspective
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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]
Overview
Historical Perspective
This collection of clinical findings was unknown until the explanation of the sickle cells in 1910 by the Chicago cardiologist and professor of medicine James B. Herrick (1861-1954) whose intern Ernest Edward Irons (1877-1959) 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. Noel was readmitted several times over the next three years for "muscular rheumatism" and "bilious attacks" while an undergraduate. Noel completed his studies and returned to capital of Grenada (St. George's) to practice dentistry. He died of pneumonia in 1916 and is buried in the Catholic cemetery at Sauteurs in the north of Grenada.[1]
The disease was named "sickle-cell anemia" by Vernon Mason in 1922. In retrospect some elements of the disease had been recognised earlier: a paper in the Southern Journal of Medical Pharmacology in 1846 described the absence of a spleen in the autopsy of a runaway slave. The African medical literature reported this condition in the 1870s where it was known locally as ogbanjes ('children who come and go') because of the very high infant mortality in this condition. And a history of the condition tracked reports back to 1670 in one Ghanaian family.[2] Also, the practice of using tar soap to cover blemishes caused by sickle cell sores was prevalent in the African American community.
Proof that sickle-cell disease was associated with an alteration of hemoglobin was published in 1949 by Linus Pauling and coworkers. 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.
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 70,000-150,000 years.
References
- ↑ Savitt, TL (1989). "Herrick's 1910 case report of sickle cell anemia. The rest of the story". JAMA. 261 (2): 266–271. ISSN 0098-7484. PMID 2642320. Unknown parameter
|coauthors=ignored (help) - ↑ 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) - ↑ 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)