Haemochro­mato­sis dam­ages tis­sue


HAEMOCHRO­MATO­SIS IS a ge­netic dis­or­der which causes the body to ab­sorb an ex­ces­sive amount of iron from the diet. The iron may be de­posited in var­i­ous or­gans, mainly the liver, but also the heart, pan­creas, en­docrine glands and joints. Over time, these de­posits of iron may cause dam­age to tis­sues.


In­her­ited dis­or­ders are caused by de­fec­tive genes in the cells which make up the body. To de­velop Haemochro­mato­sis one has to in­herit a de­fec­tive gene from both par­ents. Many of the symp­toms as­so­ci­ated with Haemochro­mato­sis are found in other dis­or­ders. Most in­di­vid­u­als who have Haemochro­mato­sis de­velop, in time, at least one or two of the fol­low­ing symp­toms: * Chronic fa­tigue, weak­ness or lethargy. * Ab­dom­i­nal pain in the stomach re­gion or up­per right-hand side.

* Arthri­tis which is par­tic­u­larly com­mon in the first two fin­gers. * Late on­set di­a­betes. * Liver dis­or­ders. * Sex­ual dis­or­ders such as loss of sex drive, im­po­tence in men, ab­sent or scanty men­strual pe­ri­ods and early menopause in women.

* Car­diomy­opa­thy - a dis­ease of the heart mus­cle-may de­velop.

* Neu­ro­log­i­cal or psy­chi­atric dis­or­ders leading to im­paired mem­ory, mood swings, ir­ri­tabil­ity and de­pres­sion.

* Bronz­ing of the skin or a per­ma­nent tan.


Iron tests such as Fer­ritin lev­els and Trans­fer­rin Sat­u­ra­tion lev­els give an in­di­ca­tion of the amount of iron stored in the body, as well as the iron ac­cu­mu­lated in the body. These tests serve to in­di­cate those who should pro­ceed to be ge­net­i­cally tested and also guide doc­tors when treat­ing pa­tients with Haemochro­mato­sis.

Ge­netic test­ing for the Haemochro­mato­sis gene mu­ta­tion is pos­i­tive in over 90% of those af­fected. It will also help to iden­tify other fam­ily

Haemochro­mato­sis his­tol­ogy of liver cell tis­sue mem­bers at risk of iron over­load.

Liver biopsy, which in­volves re­moval of a small sam­ple of the liver us­ing a small nee­dle, is oc­ca­sion­ally rec­om­mended when pa­tients' blood tests re­veal liver dam­age or when pa­tients' fer­ritin lev­els are ex­tremely high. This in­ves­ti­ga­tion gives an in­di­ca­tion as to the de­gree of tis­sue dam­age which may have oc­curred.

Rel­a­tives at risk of de­vel­op­ing iron over­load should be tested. This is es­sen­tial in the case of broth­ers and sis­ters who stand a 1 in 4 chance of be­ing af­fected. Par­ents and chil­dren from the age of 18 years should also be tested.


Treat­ment con­sists of reg­u­lar re­moval of blood in a pro­ce­dure known as phle­botomy. It is usu­ally per­formed once weekly depend­ing on the

“It is not pos­si­ble to treat Haemochro­mato­sis on a low iron diet alone.”

de­gree of iron over­load. Dur­ing treat­ment, serum fer­ritin lev­els are mon­i­tored and treat­ment usu­ally continues un­til the fer­ritin level reaches 20. As ex­cess iron will con­tinue to be ab­sorbed, the in­di­vid­ual will need oc­ca­sional phle­botomy ses­sions, on aver­age ev­ery 3-4 months for the rest of their life­time. Mon­i­tor­ing of trans­fer­rin sat­u­ra­tion and fer­ritin is used to as­sess whether phle­botomy is re­quired more or less of­ten.

It is not pos­si­ble to treat Haemochro­mato­sis on a low iron diet alone. The fol­low­ing rec­om­men­da­tions are im­por­tant, how­ever:

* Vi­ta­min sup­ple­ments or ton­ics con­tain­ing iron and break­fast ce­re­als for­ti­fied with iron should be avoided.

* Vi­ta­min C should also be avoided as it in­creases the ab­sorp­tion of iron from our diet.

* Di­etary of­fal should be re­duced, as should red meat con­sump­tion.

* Al­co­hol in­take should be min­imised, par­tic­u­larly with meals as it may in­crease iron ab­sorp­tion.

* Tea and all milk prod­ucts taken with meals re­duce the amount of iron ab­sorbed.

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