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Haemochromatosis is primarily a genetic disorder, although it can be acquired through taking too many iron supplements 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). What Do The Genetic Mutations Mean to Me?
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