Sickle Cell Disease Clinical Trial
Official title:
Genes Influencing Iron Overload State
Iron overload, which can be defined operationally as too much iron in the body, develops as a
consequence of too many blood transfusions given, or due to genetic defects hereditary
hemochromatosis). Iron accumulates in several organs in the body, such as the heart, liver,
endocrine glands (pancreas, thyroid, etc.), and spleen. Excessive iron can damage organs and
may even cause death. Iron overload needs to be appropriately monitored and treated to avoid
unnecessary morbidity and mortality.
The present study, GENIOS, proposes to test prospectively the hypothesis that genetic
modifiers influence the iron overload status of patients receiving transfusions. To test this
hypothesis, the study will perform genetic studies to investigate possible genetic influences
for iron accumulation in the body and will study iron accumulation not only in the liver, but
also in the heart, pancreas, kidneys, and spleen. In addition: the study will investigate if
these same genes have any role during treatment of iron overload, in other words, if certain
genetic mutations will influence how iron exits the body. This study will also investigate
how substances that are known to control the trafficking of iron in and out of the body and
its damaging effects to the tissues (hepcidin and non transferrin-bound iron) are linked to
the accumulation of iron in the heart and liver. Iron in the body will be measured by R2*MRI
and no liver biopsies will be required. Genetic studies will be done by specialized tests
using peripheral blood DNA.
Iron accumulates differently in different people and in different organs of the body. Some
people accumulate iron faster than others, even when receiving the same number of blood
transfusions
This study will focus on the following primary objective:
- To investigate the association of GSTM1 gene deletion and liver iron concentration in
patients with sickle cell disease and transfusional iron-overload.
The Secondary Objectives of the study are:
- To explore the role of other iron metabolism-associated candidate genes on liver iron
concentration of sickle cell patients with transfusional iron-overload.
- To explore the role of GSTM1 genotypes and other iron metabolism-associated candidate
genes on maintenance and decline of liver iron concentration of patients with sickle
cell disease and transfusional iron-overload.
- To explore the role of GSTM1 genotypes and other iron metabolism-associated candidate
genes on increase, maintenance, and decline of iron concentration in the heart,
pancreas, kidneys, and spleen of patients with sickle cell disease and transfusional
iron overload.
- To explore the role of GSTM1 gene deletion and other iron metabolism-associated
candidate genes on increase, maintenance, and decline of iron concentration in the
liver, heart, pancreas, kidneys, and spleen of non-sickle cell patients with
transfusional iron-overload.
- To explore the relationship between Non-Transferrin Bound Iron (NTBI), hepcidin, organ
function, and iron increase, maintenance, and decline in the liver, heart, pancreas,
kidneys, and spleen of patients with transfusional iron overload.
;
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