Haemochromatosis type 3 is a type of iron overload disorder associated with deficiencies in transferrin receptor 2. It exhibits an autosomal recessive inheritance pattern.[2][3][4] The first confirmed case was diagnosed in 1865 by French doctor Trousseau. Later in 1889, the German doctor von Recklinghausen indicated that the liver contains iron, and due to bleeding being considered to be the cause, he called the pigment "Haemochromatosis."[5] In 1935, English doctor Sheldon's groundbreaking book titled, Haemochromatosis, reviewed 311 patient case reports and presented the idea that haemochromatosis was a congenital metabolic disorder.[5]Hereditary haemochromatosis is a congenital disorder which affects the regulation of iron metabolism thus causing increased gut absorption of iron and a gradual build-up of pathologic iron deposits in the liver and other internal organs, joint capsules and the skin.[5] The iron overload could potentially cause serious disease from the age of 40–50 years. In the final stages of the disease, the major symptoms include liver cirrhosis, diabetes and bronze-colored skin. There are four types of hereditary hemochromatosis which are classified depending on the age of onset and other factors such as genetic cause and mode of inheritance.[6]
^RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Hemochromatosis type 3". www.orpha.net. Retrieved 8 June 2019.{{cite web}}: CS1 maint: numeric names: authors list (link)
^Roetto A, Totaro A, Piperno A, et al. (May 2001). "New mutations inactivating transferrin receptor 2 in hemochromatosis type 3". Blood. 97 (9): 2555–60. doi:10.1182/blood.V97.9.2555. PMID 11313241. S2CID 36015072.
^Roetto A, Daraio F, Alberti F, et al. (2002). "Hemochromatosis due to mutations in transferrin receptor 2". Blood Cells Mol. Dis. 29 (3): 465–70. doi:10.1006/bcmd.2002.0585. PMID 12547237.
^Roetto A, Camaschella C (June 2005). "New insights into iron homeostasis through the study of non-HFE hereditary haemochromatosis". Best Pract Res Clin Haematol. 18 (2): 235–50. doi:10.1016/j.beha.2004.09.004. PMID 15737887.
^ abcCite error: The named reference :02 was invoked but never defined (see the help page).
^"Hereditary hemochromatosis". MedlinePlus. 1 February 2019.
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function mutation in the SLC40A1 gene associated with hereditary haemochromatosistype 4". Internal Medicine Journal. 45 (6): 672–676. doi:10.1111/imj...
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene"...
Iron overload (also known as haemochromatosis or hemochromatosis) is the abnormal and increased accumulation of total iron in the body, leading to organ...
enlargement (alcohol, NAFLD, haemochromatosis) Kayser-Fleisher rings (Wilson's disease) Increased pigmentation of the skin (haemochromatosis) Signs of right heart...
1641. In 1889 he coined the term "haemochromatosis", and was the first to provide the link between haemochromatosis and iron accumulation in body tissue...
involved as well Systemic diseases affecting liver and biliary tree e.g. haemochromatosis Follow-up of liver transplant Pancreatitis - commonly due to alcohol...
metabolism in mynah birds (Gracula religiosa) resembles human hereditary haemochromatosis" Avian Pathology 32(#6): 625–632. Sankaran, R. (1998). An annotated...
(2001). "Variation of iron loading expression in C282Y homozygous haemochromatosis probands and sib pairs". Journal of Medical Genetics. 38 (9): 632–636...
Roetto A, Calì A, et al. (2000). "The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22". Nat. Genet. 25 (1): 14–5. doi:10.1038/75534....
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acid implicated in colon cancer and other gastrointestinal cancers. Haemochromatosis - a condition in which the body stores too much iron Bahima disease...
the severity of the associated liver damage. The same is true for haemochromatosis (iron overload), although it is frequently omitted. Primary biliary...
Alzheimer's disease Chronic disorders such as liver disease, asthma and haemochromatosis The institute is located at 300 Herston Rd, Herston, Brisbane, Australia...
alternative to regular phlebotomy to treat excess iron stores in people with haemochromatosis. Other chelating agents have been discovered. They all function by...
ISBN 0-521-48199-6. haemochromatosis hemingway beegel. Hemingway, Ernest (1985). The Dangerous Summer. London: Hamish Hamilton Ltd. ISBN 0-241-11521-3. Kakutani...
"An undescribed disease of bone", but he had already been writing on haemochromatosis and he began studying this disease in depth, gave the Bradshaw Lecture...
insufficiency. Infiltrative disorders like sarcoidosis, amyloidosis, and haemochromatosis have been known to cause adrenal insufficiency. Hemorrhages in the...
concluded that, despite Beethoven being compound heterozygous for type-1 hereditary haemochromatosis, he remained at a low overall risk for an iron overload disorder...
Pointon JJ, et al. (October 2004). "Recent advances in understanding haemochromatosis: a transition state". Journal of Medical Genetics. 41 (10): 721–730...
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