Hyperferritinemia and splenic iron overload : remember ferroportin

A 34-year old asymptomatic lady was referred to the gastroenterologist with fortuitously discovered hyperfer- ritinemia. There was no history of hematologic disease. She did not consume any alcohol. An uncle of hers had an iron overload. Physical examination was normal with a BMI of 21 and blood pressure of 135/80 mmHg. Laboratory data showed high level of ferritin (1154 ng/ml) but normal iron level (106 µg /dl) and normal transferrin saturation value (44%). CRP (2 mg/L), blood film, glycemia, lipid profil, liver tests were normal. Ceruloplasmin level was 32 mg/dl (normal range : 20-60 mg/dl). A previously per- formed genetic test for HFE revealed no C282Y muta- tion. Abdominal Magnetic resonance imaging (MRI) without contrast showed light hepatic iron overload, estimated at 40 µmol/gr but also a splenic hyposignal on gradient echo (GE) T2 MRI images. Study of the ferro- portin gene (SLC40A1) showed presence in one allele of a substitution of adenine to guanine at nucleotid 470 (c.470A > G) corresponding to p.Asp157Gly (D157G) at the proteic level. This deleterious mutation confirmed the diagnosis of ferroportin disease, also called type IVa or SLC40A1-related hereditary hemochromatosis. Phle- botomy was initiated with monitoring of hemoglobin. Recommendation was made for performing genotypic screening of relatives.