Keywords: Susceptibility/QSM, Genetic Diseases, Haematology
Motivation: Sickle cell disease (SCD) can lead to cognitive difficulties, but transfusion treatment presents a risk of iron overload which may lead to neurodegeneration. Better understanding of the impact of SCD and transfusions is needed.
Goal(s): To use quantitative susceptibility mapping (QSM) to assess iron deposition in the brain in SCD with and without transfusions.
Approach: Brain susceptibility was quantified in 28 SCD patients and 16 healthy controls using QSM and related to fine motor function by a general linear model.
Results: Susceptibilities in deep brain structures were not correlated with transfusions, SCD status (except in substantia nigra), or motor function (except in pulvinar).
Impact: Using an up-to-date QSM reconstruction pipeline reduced noise and artefacts and revealed correlations of susceptibility with age which were not found previously in these data, confirming the importance of correct coil combination for QSM studies.
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