Haemochromatosis by Valeria Mirón

Iron overload or haeromachronatosis it’s a abnormally high absorption of iron from the diet.
This issue can be caused by an hereditary genetic disorder  (in the chromosome 6) or the result from repeated blood transfusions.


There are two types of haermochromatosis:
- mutation C282Y: substitution of guanine for adenine.

- mutation H63D: the cytosine is replaced by the guanine.

SINGS AND SYMPTOMS

Haemochromatosis may present the following clinical syndromes:
-cirrhosis of the liver
-diabetes
-cardiomyopathy
-arthritis
-testicular failure
-bronzing of the skin
-joint pain and bone pain

The commonly affected organs are: the liver, the heart and endocrine glands.

DIAGNOSIS
There are several methods available for diagnosing and monitoring iron loading including:
-serum ferritin: shows the levels of iron in the liver.
-liver biopsy.
-HFE (human haemochromatosis protein) is included by the HFE gene located on short arm of  chromosome 6 at location 6p.21.3

TREATMENT

The routine treatment in an  otherwise-healthy person consists of regularly scheduled phlebotomies. Once iron and other markers are within normal range, treatments might be scheduled every month or every three months.

FUTURE

There have been several new developments in the treatment of iron and copper overload disorders, such as haemochromatosis, thalassaemia and Wilson's disease. Clinical trials of orally administered iron chelators, both as monotherapy and in combination with deferoxamine, are in progress around the world. Several new chelators are now being introduced in clinical trials. Future therapies for   iron overload may comprise of oral iron binding agents capable of preventing dietary iron absorption from the diet. The characterisation of specific iron transporters such as the divalent metallic transporter and ferroportin may hold promise for the development of 'smart' compounds capable of blocking iron transport. Several new agents are now available for the management of Wilson's disease, including trientine, zinc and tetrathiomolybdate. This review, will discuss the pathogenesis, and current and future therapies for iron and copper overload disorders.

CURIOSITIS
 The famouse president of the United States, Donald Trump has this dessise.

WEBGRAFIA
http ://en.wikipedi sa.org/wiki/Iron_overload