Hemochromatosis historical perspective: Difference between revisions
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{{Hemochromatosis}} | {{Hemochromatosis}} | ||
{{CMG}}; {{AE}} {{SKA}} | {{CMG}}; {{AE}} {{SKA}} | ||
==Overview== | ==Overview== | ||
The disease was first described in 1865 by [[Armand Trousseau]] in an article on [[diabetes mellitus|diabetes]] in patients with changing skin color.<ref name=":0">name=Trousseau_1865>{{cite journal | author = Trousseau A| title = Glycosurie, diabète sucré | journal = Clinique médicale de l'Hôtel-Dieu de Paris | year = 1865 | volume = 2| pages = 663–98 | url= }}</ref> Trousseau did not connect the [[diabetes]] with [[iron]] accumulation; instead this was done by [[Friedrich Daniel von Recklinghausen]] in 1890.<ref name=":1">{{cite journal | author = von Recklinghausen FD | title = Hämochromatose | journal = Tageblatt der Naturforschenden Versammlung 1889 | year = 1890 | pages = 324 | url= }}</ref><ref>[http://www.whonamedit.com/doctor.cfm/1174.html Biography of Daniel von Recklinghausen]</ref> The mutation of human genome to increase iron absorption in people who are exposed to iron deficient diet is evolutionary stand point. Hemocromatosis is also known as Celtic Curse. | The disease was first described in 1865 by [[Armand Trousseau]] in an article on [[diabetes mellitus|diabetes]] in patients with changing skin color.<ref name=":0">name=Trousseau_1865>{{cite journal | author = Trousseau A| title = Glycosurie, diabète sucré | journal = Clinique médicale de l'Hôtel-Dieu de Paris | year = 1865 | volume = 2| pages = 663–98 | url= }}</ref> Trousseau did not connect the [[diabetes]] with [[iron]] accumulation; instead this was done by [[Friedrich Daniel von Recklinghausen]] in 1890.<ref name=":1">{{cite journal | author = von Recklinghausen FD | title = Hämochromatose | journal = Tageblatt der Naturforschenden Versammlung 1889 | year = 1890 | pages = 324 | url= }}</ref><ref>[http://www.whonamedit.com/doctor.cfm/1174.html Biography of Daniel von Recklinghausen]</ref> The mutation of human genome to increase iron absorption in people who are exposed to iron deficient diet is evolutionary stand point. Hemocromatosis is also known as Celtic Curse. | ||
==Historical Perspective== | ==Historical Perspective== | ||
Irish people are most commonly affected population and existence of C282Y gene in Irish origin correlates the pathogensis and [[Ethnicity and health|ethnicity]]. | Irish people are most commonly affected population and existence of C282Y [[gene]] in Irish origin correlates the pathogensis and [[Ethnicity and health|ethnicity]]. | ||
The migration of people from Pontic Steppe to the east in prehistory Bronze age era around 4000 years ago led to foundation of Irish population. Genome of men found from that era showed to have carrier of gene mutation C282Y.<ref name="CassidyMartiniano2016">{{cite journal|last1=Cassidy|first1=Lara M.|last2=Martiniano|first2=Rui|last3=Murphy|first3=Eileen M.|last4=Teasdale|first4=Matthew D.|last5=Mallory|first5=James|last6=Hartwell|first6=Barrie|last7=Bradley|first7=Daniel G.|title=Neolithic and Bronze Age migration to Ireland and establishment of the insular Atlantic genome|journal=Proceedings of the National Academy of Sciences|volume=113|issue=2|year=2016|pages=368–373|issn=0027-8424|doi=10.1073/pnas.1518445113}}</ref> | The migration of people from Pontic Steppe to the east in prehistory Bronze age era around 4000 years ago led to foundation of Irish population. Genome of men found from that era showed to have carrier of gene mutation C282Y.<ref name="CassidyMartiniano2016">{{cite journal|last1=Cassidy|first1=Lara M.|last2=Martiniano|first2=Rui|last3=Murphy|first3=Eileen M.|last4=Teasdale|first4=Matthew D.|last5=Mallory|first5=James|last6=Hartwell|first6=Barrie|last7=Bradley|first7=Daniel G.|title=Neolithic and Bronze Age migration to Ireland and establishment of the insular Atlantic genome|journal=Proceedings of the National Academy of Sciences|volume=113|issue=2|year=2016|pages=368–373|issn=0027-8424|doi=10.1073/pnas.1518445113}}</ref> | ||
* In 1865, a French internist, [[Armand Trousseau]] wrote an article describing hemochromatosis findings as diabetic patient with cirrhosis of the liver that expressed a bronzed skin color.r.<ref name=":0" /> | |||
In | * In 1890, a German pathologist , [[Friedrich Daniel von Recklinghausen]] gave it name as hemochromatosis.<ref name=":1" /> | ||
In | * In 1929, Strachan, A. S., Scotish pathologist reported 33 cases of hemochromatosis in 1100 autopsies on black subjects in Johannesburg, SA.<ref name="pmid2227939">{{cite journal| author=Lord DK, Dunham I, Campbell RD, Bomford A, Strachan T, Cox TM| title=Molecular analysis of the human MHC class I region in hereditary haemochromatosis. A study by pulsed-field gel electrophoresis. | journal=Hum Genet | year= 1990 | volume= 85 | issue= 5 | pages= 531-6 | pmid=2227939 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2227939 }}</ref> | ||
In | * In 1935 J.H. Sheldon, a British physician, described the hereditary nature of hemochromatosis and it's pathogensis.<ref name="pmid2659713">{{cite journal| author=Bacon BR| title=Joseph H. Sheldon and hereditary hemochromatosis: historical highlights. | journal=J Lab Clin Med | year= 1989 | volume= 113 | issue= 6 | pages= 761-2 | pmid=2659713 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2659713 }}</ref> | ||
In | * In 1937, Widdowson E M, McCance R A, Birtish physicans, explained iron absorption exceeds excretion in two male and female volunteer candidates.<ref name="pmid16746545">{{cite journal| author=Widdowson EM, McCance RA| title=The absorption and excretion of iron before, during and after a period of very high intake. | journal=Biochem J | year= 1937 | volume= 31 | issue= 11 | pages= 2029-34 | pmid=16746545 | doi= | pmc=1267176 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16746545 }}</ref> | ||
In | * In 1942, Balfour WM, U.S. pathologist, showed absorption variability in normal, pregnancy, anemic and hemochromatosis patients. These findings were later concluded by Sheldon to be “data suggest that he was really dealing with deposits of hemosiderin due to hemolysis resulting from [[parasitic]] infections-perhaps especially [[schistosomiasis]].” <ref name="pmid19871218">{{cite journal| author=Balfour WM, Hahn PF, Bale WF, Pommerenke WT, Whipple GH| title=RADIOACTIVE IRON ABSORPTION IN CLINICAL CONDITIONS: NORMAL, PREGNANCY, ANEMIA, AND HEMOCHROMATOSIS. | journal=J Exp Med | year= 1942 | volume= 76 | issue= 1 | pages= 15-30 | pmid=19871218 | doi= | pmc=2135296 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19871218 }}</ref> | ||
In | * In 1951, Moore A, explained with support of experiment that iron excretion is limited. | ||
* In 1955, Clement A Finch, a U.S. physician, who published histological findings of hemochroatosis in 707 patients.<ref name="pmid2219902">{{cite journal| author=Finch CA| title=Hemochromatosis--treatment is easy, diagnosis hard. | journal=West J Med | year= 1990 | volume= 153 | issue= 3 | pages= 323-5 | pmid=2219902 | doi= | pmc=1002547 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2219902 }}</ref> | |||
* In 1996, Felder J. N, U.S. geneticist, discovered HEF, a novel [[MHC class I]]-like gene which is mutated in patients with [[Heredity|hereditary]] hemochromatosis.<ref name="pmid8696333">{{cite journal| author=Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A et al.| title=A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. | journal=Nat Genet | year= 1996 | volume= 13 | issue= 4 | pages= 399-408 | pmid=8696333 | doi=10.1038/ng0896-399 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8696333 }}</ref> | |||
==== Famous case: ==== | |||
In | In 1991, the disclosure of medical records confirmed the diagnosis of hemochromatosis in the instance of Ernest Hemingway, an American novelist, short-story writer, and journalist, dating back to the year 1961.<ref>{{Citation | year=1996 | title=Burwell RM. Hemingway: the postwar years and the posthumous novels}}</ref> | ||
==References== | ==References== | ||
Latest revision as of 22:38, 8 September 2023
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sunny Kumar MD [2]
Overview
The disease was first described in 1865 by Armand Trousseau in an article on diabetes in patients with changing skin color.[1] Trousseau did not connect the diabetes with iron accumulation; instead this was done by Friedrich Daniel von Recklinghausen in 1890.[2][3] The mutation of human genome to increase iron absorption in people who are exposed to iron deficient diet is evolutionary stand point. Hemocromatosis is also known as Celtic Curse.
Historical Perspective
Irish people are most commonly affected population and existence of C282Y gene in Irish origin correlates the pathogensis and ethnicity.
The migration of people from Pontic Steppe to the east in prehistory Bronze age era around 4000 years ago led to foundation of Irish population. Genome of men found from that era showed to have carrier of gene mutation C282Y.[4]
- In 1865, a French internist, Armand Trousseau wrote an article describing hemochromatosis findings as diabetic patient with cirrhosis of the liver that expressed a bronzed skin color.r.[1]
- In 1890, a German pathologist , Friedrich Daniel von Recklinghausen gave it name as hemochromatosis.[2]
- In 1929, Strachan, A. S., Scotish pathologist reported 33 cases of hemochromatosis in 1100 autopsies on black subjects in Johannesburg, SA.[5]
- In 1935 J.H. Sheldon, a British physician, described the hereditary nature of hemochromatosis and it's pathogensis.[6]
- In 1937, Widdowson E M, McCance R A, Birtish physicans, explained iron absorption exceeds excretion in two male and female volunteer candidates.[7]
- In 1942, Balfour WM, U.S. pathologist, showed absorption variability in normal, pregnancy, anemic and hemochromatosis patients. These findings were later concluded by Sheldon to be “data suggest that he was really dealing with deposits of hemosiderin due to hemolysis resulting from parasitic infections-perhaps especially schistosomiasis.” [8]
- In 1951, Moore A, explained with support of experiment that iron excretion is limited.
- In 1955, Clement A Finch, a U.S. physician, who published histological findings of hemochroatosis in 707 patients.[9]
- In 1996, Felder J. N, U.S. geneticist, discovered HEF, a novel MHC class I-like gene which is mutated in patients with hereditary hemochromatosis.[10]
Famous case:
In 1991, the disclosure of medical records confirmed the diagnosis of hemochromatosis in the instance of Ernest Hemingway, an American novelist, short-story writer, and journalist, dating back to the year 1961.[11]
References
- ↑ 1.0 1.1 name=Trousseau_1865>Trousseau A (1865). "Glycosurie, diabète sucré". Clinique médicale de l'Hôtel-Dieu de Paris. 2: 663&ndash, 98.
- ↑ 2.0 2.1 von Recklinghausen FD (1890). "Hämochromatose". Tageblatt der Naturforschenden Versammlung 1889: 324.
- ↑ Biography of Daniel von Recklinghausen
- ↑ Cassidy, Lara M.; Martiniano, Rui; Murphy, Eileen M.; Teasdale, Matthew D.; Mallory, James; Hartwell, Barrie; Bradley, Daniel G. (2016). "Neolithic and Bronze Age migration to Ireland and establishment of the insular Atlantic genome". Proceedings of the National Academy of Sciences. 113 (2): 368–373. doi:10.1073/pnas.1518445113. ISSN 0027-8424.
- ↑ Lord DK, Dunham I, Campbell RD, Bomford A, Strachan T, Cox TM (1990). "Molecular analysis of the human MHC class I region in hereditary haemochromatosis. A study by pulsed-field gel electrophoresis". Hum Genet. 85 (5): 531–6. PMID 2227939.
- ↑ Bacon BR (1989). "Joseph H. Sheldon and hereditary hemochromatosis: historical highlights". J Lab Clin Med. 113 (6): 761–2. PMID 2659713.
- ↑ Widdowson EM, McCance RA (1937). "The absorption and excretion of iron before, during and after a period of very high intake". Biochem J. 31 (11): 2029–34. PMC 1267176. PMID 16746545.
- ↑ Balfour WM, Hahn PF, Bale WF, Pommerenke WT, Whipple GH (1942). "RADIOACTIVE IRON ABSORPTION IN CLINICAL CONDITIONS: NORMAL, PREGNANCY, ANEMIA, AND HEMOCHROMATOSIS". J Exp Med. 76 (1): 15–30. PMC 2135296. PMID 19871218.
- ↑ Finch CA (1990). "Hemochromatosis--treatment is easy, diagnosis hard". West J Med. 153 (3): 323–5. PMC 1002547. PMID 2219902.
- ↑ Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A; et al. (1996). "A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis". Nat Genet. 13 (4): 399–408. doi:10.1038/ng0896-399. PMID 8696333.
- ↑ Burwell RM. Hemingway: the postwar years and the posthumous novels, 1996