does not get exported through ferroportin and accumulates in the cytosolic iron-storage molecule ferritin. Figure 4: Endocytosis of the complex of iron, transferrin and the transferrin receptor.
Transferrin again acquires this iron and transports it back to the erythroblasts, where it is incorporated both into ferritin and into haemoglobin. The factors which control the flow of iron from ...
HH has incomplete penetrance; although a majority of the C282Y homozygotes develop elevated serum ferritin (SF) and transferrin saturation (TS), less than half develop any symptoms and about 28% ...
Siblings have approximately a 1 in 4 chance of also being homozygotes and should therefore be screened for the C282Y and H63D mutations, transferrin saturation, and serum ferritin level.