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How Did I Get Haemochromatosis?

Haemochromatosis is primarily a genetic disorder, although it can be acquired through taking too many iron or vitamin supplements which contain high dosages of iron or lots of blood transfusions.

Haemochromatosis is a recessive gene which is inherited from parents who either carry one gene mutation (carriers) each or who carry two gene mutations (most likely to be affected with haemochromatosis).  People who have inherited only one gene from either parent are known as carriers and are far less likely to store iron in great quantities than those who carry two genes.  There are currently three genetic mutations that can be tested for by a simple blood test,  C282Y, H63D and S65C.  Possibly in time, more genes will be discovered.

People who have inherited two copies of the same gene such as C282Y/C282Y  or H63D/H63D are known as "homozygous" and those who have inherited one copy of a gene are known as "heterozygous".  About 3% of people who have hereditary haemochromatosis have inherited one copy of C282Y and one copy of H63D  (C282Y/H63D) genes and these people are known as compound heterozygous.   About 90% of people who have hereditary haemochromatosis have the combination of C282Y/C282Y.  When a person has two copies of an of these genes it means that BOTH parents are either be carriers or actually have hereditary haemochromatosis themselves.  It is also interesting that in a few very rare cases, it has been reported that a child has acquired two genes from only one parent ... possibly a spontaneous mutation has occurred  to enable this to happen although further research needs to be done to clarify this).

Where Did Haemochromatosis Originate?

It is a widely held belief amongst researchers that genetic or hereditary haemochromatosis originated around 40,000 years ago in Ireland.  Famine and a very poor diet contributed to a mutation of genes in a single ancestor in order to absorb extra iron.  Nature was very clever in giving a "helping hand" at the time - and it was obviously beneficial way back then, however these days, the descendants of these Celtic people who have inherited this gene from their ancestors do not have any need to store extra iron, infact they are accumulating way too much iron which is toxic to the body in excess.  The C282Y gene is the gene associated with many people of Irish descent. 

The gene H63D seems to be prevalent among people of Northern Italian descent. 

What Do The Genetic Mutations Mean to Me?

More than 90% of haemochromatosis patients are homozygous  for C282Y.  This means they carry a double gene mutation of C282Y.   C282Y/C282Y.  This is the most severe form haemochromatosis and will result in significant iron overload and symptoms will usually appear earlier than with other genetic expressions.

Those who are heterozygous for C282Y are carriers but very rarely develop significant iron overload.  ie, they carry one single mutation of the gene.  C282Y

Compound heterozygotes with one copy of H63D and one copy of C282Y may develop iron overload.  This is usually not as severe as in C282Y homozygotes but may be clinically significant and may still result in the need to give blood to keep iron levels and transferrin saturation within limits.  C282Y/H63D

Homozygotes for H63D or S65C may have iron overload in some cases, usually mild.  H63D/H63D or S65C/S65C

Heterozygotes of H63D or S65C are very unlikely to have iron overload.  H63D or S65C or H63D/S65C


Index Links


Book Reviews

Haemochromatosis Cookbook Review

The Official Patient Sourcebook on Hemochromatosis  Review

21st Century Ultimate Medical Guide to Hemochromatosis - Authoritative Clinical Information for Physicians and Patients (Two CD-ROM Set)

Hemochromatosis Exposing The Hidden Dangers of Iron Book Review

Hemochromatosis: Genetics, Pathophysiology, Diagnosis and Treatment (For Medical Professionals) Review

Stories of Haemochromatosis Sufferers

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Medical Papers: 

Incidence of Haemochromatosis in People of Italian Descent

Hereditary and Acquired Iron Overload

Was the C282Y mutation an Irish Gaelic mutation that the Vikings help disseminate? 2007-2009

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