Iron Overload (cont.)
How is hereditary hemachromatosis inherited?
Hereditary hemochromatosis is an autosomal recessive
disorder, which means an individual has the possibility of developing iron
overload only if he/she inherits abnormal genes from both parents. (An autosomal
recessive disorder is
different from autosomal dominant disorder in which individuals can develop
disease by inheriting an abnormal chromosome from only one parent.)
The human body is composed of trillions of cells. Inside the inner core
(nucleus) of each cell
are chromosomes. Every human cell has two sets of 23
chromosomes (total of 46 chromosomes). Each set is inherited from one parent.
Chromosomes contain DNA that carries genes
that govern all bodily functions including cell metabolism, appearance, height,
intelligence, hair and eye
color, and other physical traits. Defects in DNA (also called mutations) are
passed from one generation to the next, and sometimes can cause diseases.
There are primarily two mutations associated with
hereditary hemochromatosis; C282Y and H63D. The numbers 282 and 63 designate the
location of the defects on the HFE gene located on chromosome number 6. An
individual who inherits two C282Y mutations (one from each parent) are called
C282Y homozygotes, and he/she has a significant chance of developing
hemochromatosis. In fact, C282Y homozygotes account for 95% of cases of
hereditary hemochromatosis. Patients who inherit one C282Y mutation from one parent and another H63D mutation from
another parent are called compound heterozygotes. They account for another three
percent
of the cases of hereditary hemochromatosis.
Next: What are the symptoms of hemochromatosis? »
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