Unexplained isolated hyperferritinemia without iron overload
Autor: | Cristina Arosio, Alberto Piperno, Irene Pelloni, Sara Pelucchi, Federico Greni, Paolo Santambrogio, Sonia Levi, Raffaella Mariani, Marco Casati, Giulia Ravasi, Silvia Majore |
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Rok vydání: | 2017 |
Předmět: |
0301 basic medicine
Proband Iron metabolism disorder medicine.medical_specialty biology Offspring Case-control study Hematology medicine.disease Ferritin 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Endocrinology 030220 oncology & carcinogenesis Internal medicine Immunology medicine biology.protein Decreased serum ferritin Gene Hemochromatosis |
Zdroj: | American Journal of Hematology. 92:338-343 |
ISSN: | 0361-8609 |
DOI: | 10.1002/ajh.24641 |
Popis: | Although hyperferritinemia may be reflective of elevated total body iron stores, there are conditions in which ferritin levels are disproportionately elevated relative to iron status. Autosomal dominant forms of hyperferritinemia due to mutations in the L-ferritin IRE or in A helix of L-ferritin gene have been described, however cases of isolated hyperferritinemia still remain unsolved. We describe 12 Italian subjects with unexplained isolated hyperferritinemia (UIH). Four probands have affected siblings, but no affected parents or offspring. Sequencing analyses did not identify casual mutations in ferritin gene or IRE regions. These patients had normal levels of intracellular ferritin protein and mRNA in peripheral blood cells excluding pathological ferritin production at transcriptional and post-transcriptional level. In contrast with individuals with benign hyperferritinemia caused by mutations affecting the ferritin A helix, low rather than high glycosylation of serum ferritin was observed in our UIH subjects compared with controls. These findings suggest that subjects with UIH have a previously undescribed form of hyperferritinemia possibly attributable to increased cellular ferritin secretion and/or decreased serum ferritin clearance. The cause remains to be defined and we can only speculate the existence of mutations in gene/s not directly implicated in iron metabolism that could affect ferritin turnover including ferritin secretion. |
Databáze: | OpenAIRE |
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