Editing Hereditary haemochromatosis (section)

===Blood tests===
[[Ferritin|Serum ferritin]] and fasting [[transferrin saturation]] are commonly used as screening for haemochromatosis. Transferrin binds iron and is responsible for iron transport in the blood.<ref>{{Cite web |title=Iron Transport and Cellular Uptake: Transferrin/Iron Physiology |url=http://sickle.bwh.harvard.edu/iron_transport.html |website=sickle.bwh.harvard.edu |access-date=17 March 2007 |archive-url=https://web.archive.org/web/20070307113258/http://sickle.bwh.harvard.edu/iron_transport.html |archive-date=7 March 2007}}</ref> Measuring ferritin provides a crude measure of iron stores in the body. Fasting transferrin saturation values in excess of 45%, and the serum ferritin more than 250&nbsp;ug/L in males and 200&nbsp;ug/L in females are recognized as a threshold for further evaluation of haemochromatosis.<ref>{{Cite web|url=https://www.merckmanuals.com/professional/hematology-and-oncology/iron-overload/hereditary-hemochromatosis?query=hemochromatosis|title=Hereditary Hemochromatosis - Hematology and Oncology|website=Merck Manuals Professional Edition|access-date=31 May 2021|archive-date=2 June 2021|archive-url=https://web.archive.org/web/20210602213534/https://www.merckmanuals.com/professional/hematology-and-oncology/iron-overload/hereditary-hemochromatosis?query=hemochromatosis|url-status=live}}</ref> Other source says that the normal values for males are 12-300&nbsp;ng/mL and for female, 12-150&nbsp;ng/mL.<ref>{{MedlinePlusEncyclopedia|003490|Ferritin Test}}</ref> Fasting transferrin saturation is a better test to detect HH.<ref name="pmid15175440">{{cite journal |author=Pietrangelo A |title=Hereditary hemochromatosis—a new look at an old disease |journal=N. Engl. J. Med. |volume=350 |issue=23 |pages=2383–97 |date=June 2004 |pmid=15175440 |doi=10.1056/NEJMra031573 }}</ref><ref name=pmid15858186>{{cite journal |vauthors=Adams PC, Reboussin DM, Barton JC, McLaren CE, Eckfeldt JH, McLaren GD, Dawkins FW, Acton RT, Harris EL, Gordeuk VR, Leiendecker-Foster C, Speechley M, Snively BM, Holup JL, Thomson E, Sholinsky P |title=Hemochromatosis and iron-overload screening in a racially diverse population |journal=The New England Journal of Medicine |date=28 April 2005 |volume=352 |issue=17 |pages=1769–1778 |pmid=15858186 |doi=10.1056/nejmoa041534 |doi-access=free |url=https://cloudfront.escholarship.org/dist/prd/content/qt4pt636cn/qt4pt636cn.pdf |access-date=2 February 2024 |archive-date=22 July 2018 |archive-url=https://web.archive.org/web/20180722163517/https://cloudfront.escholarship.org/dist/prd/content/qt4pt636cn/qt4pt636cn.pdf |url-status=live }}</ref> Transferrin saturation greater than 62% is suggestive of homozygosity for mutations in the [[HFE gene]].<ref name="pmid7102818">{{cite journal |vauthors=Dadone MM, Kushner JP, Edwards CQ, Bishop DT, Skolnick MH|title=Hereditary hemochromatosis. Analysis of laboratory expression of the disease by genotype in 18 pedigrees |journal=American Journal of Clinical Pathology |volume=78 |issue=2 |pages=196–207 |date=August 1982 |pmid=7102818 |doi= 10.1093/ajcp/78.2.196}}</ref>

Ferritin, a protein synthesized by the liver, is the primary form of iron storage within cells and tissues.  Measuring ferritin provides a crude estimate of whole-body iron stores, though is raised in many conditions, particularly inflammatory conditions. Examples of causes for raised serum ferritin include but are not limited to: infection, chronic alcohol consumption (mainly >20g/day), [[liver disease]], [[cancer]], [[porphyria]], [[Hemophagocytic lymphohistiocytosis]], [[hyperthyroidism]], [[obesity]], [[metabolic syndrome]], [[diabetes]], several blood transfusions, too many iron supplements, [[aceruloplasminemia]], [[atransferrinemia]], hyperferritinemia cataract syndrome and others. Proinflammatory states account for up to 90% of raised ferritin.<ref name=HH>{{Cite web|url=https://mayoclinic.org/test-procedures/ferritin-test/about/pac-20384928|title=Ferritin test - Mayo Clinic|website=[[Mayo Clinic]]|access-date=21 May 2021|archive-date=8 March 2024|archive-url=https://web.archive.org/web/20240308023319/https://www.mayoclinic.org/tests-procedures/ferritin-test/about/pac-20384928|url-status=live}}</ref><ref>https://webmd.com/a-to-z-guides/ferritin-blood-test {{Webarchive|url=https://web.archive.org/web/20210521043405/https://www.webmd.com/a-to-z-guides/ferritin-blood-test |date=21 May 2021 }}. Reviewed 21 May 2021.</ref><ref name="austpre01" /> Serum ferritin in excess of 1000&nbsp;ng/mL of blood is almost always attributable to haemochromatosis.{{citation needed|date=November 2021}}

Other blood tests routinely performed include [[blood count]], [[renal function]], [[liver enzyme]]s, [[electrolyte]]s, and [[glucose]] (and/or an [[oral glucose tolerance test]]).{{citation needed|date=November 2021}}