Fig. 3.
(a) DNA automatic sequence, showing in one affected family member the presence of a 29-bp deletion, involving the IRE stem-loop. (b) Representation of the IRE located in the 5′ UTR of L-ferritin. The nucleotides found to be deleted in this HHCS family are marked between lines. They correspond to the whole 5′ sequence involved in base pairing to form the IRE stem. The IRE stem-loop secondary structure is thus predicted to be completely lost, leading to lack of the negative control by sequence/structure specific binding of IRPs.