2012, Number 2
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Medisur 2012; 10 (2)
Hemochromatosis Type I. Pathogenia and Diagnosis
Cervera GIA
Language: Spanish
References: 33
Page: 50-57
PDF size: 200.48 Kb.
ABSTRACT
Hemochromatosis type 1 is a genetic disease characterized
by high iron absorption at the intestinal crypts due
to an alteration in their metabolism, causing progressive
accumulation in a variety of organs. It should be diagnosed
in pre-clinical stages through genetic and biochemical
tests; some patients are diagnosed late, that is
after symptoms appear which is considered to be a failure
given that diagnosis during asymptomatic phase
could prevent serious organs complications of the disease.
Its incidence in Cuba has not been reported and,
although molecular diagnostics have just been introduced
in our context, it continues to be performed from
patient's clinical characteristics and quantification of
serum iron and ferritin, so that asymptomatic patients
or carriers can not be identified yet. For all these reasons
this review was conducted so that doctors know
more about this condition and the means available for
an appropriate diagnosis.
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