Hemochromatoses, Genetic Clinical Trial
Official title:
Study of the Association Between Transferrin Saturation and Asthenia in Hemochromatosis
Observational study.
The linked HFE genetic hemochromatosis (C282Y mutation in the homozygous state) is the most
common form of genetic iron overload.
Its treatment is based on bloodletting, and takes place in 2 phases, according to the
recommendations of the High Authority of Health (HAS). The first phase, called induction,
aims to achieve ferritinemia <50 by performing weekly bleeds.
The second phase, called maintenance, aims to maintain this ferritinemia <50 by performing
bleeding every 1 to 6 months depending on the case.
The treatment is therefore according to the current recommendations only adapted according to
ferritinemia, and not according to the effectiveness on the functional symptoms. However,
some patients report persistent asthenia during maintenance treatment, despite ferritin
levels <50. This could reflect an incomplete control of their disease, and leads us to raise
two points:
- It is known that in some subjects, the Transferrin Saturation Coefficient remains high,
despite ferritinemia <50; it is also known that this elevation of the Transferrin
Saturation Coefficient may be accompanied by a rise in circulating free iron, which is
toxic for the organism1.
- The asthenia observed in some patients in the maintenance phase could be linked to a
high rate of Transferrin Saturation Coefficient.
Our objective is to evaluate, in patients homozygous C282Y in maintenance phase, the
association between quality of life and Transferrin Saturation Coefficient .
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