DOI: 10.1046/j.1365-2141.2002.03946.x. Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (<i>SLC11A3</i>)

Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3)

10.1046/j.1365-2141.2002.03946.x

Crossref journal-article

Wiley

British Journal of Haematology (311)

Abstract

Summary. Iron overload may predominantly involve parenchymal or reticuloendothelial cells, the prototype of parenchymal iron overload being HFE‐related genetic haemochromatosis. We studied a family with autosomal dominant hyperferritinaemia in whom the proband showed selective iron accumulation in the Kupffer cells on liver biopsy. Analysis of L and H ferritin genes excluded mutations responsible for hereditary hyperferritinaemia/cataract syndrome or similar translational disorders. Sequence analysis of the ferroportin gene (SLC11A3) in four individuals with hyperferritinaemia singled out a three base pair deletion in a region that contains four TTG repeats. This mutation removes a TTG unit from 780 to 791, and predicts the loss of one of three sequential valine residues 160–162. Denaturing high performance liquid chromatography can be used for its detection. SLC11A3 polymorphism analysis indicates that this probably represents a recurrent mutation due to slippage mispairing. Affected individuals may show marginally low serum iron and transferrin saturation, and young women may have marginally low haemoglobin concentration levels. Serum ferritin levels are directly related to age, but are 10–20 times higher than normal. Heterozygosity for the ferroportin Val 162 deletion represents the prototype of selective reticuloendothelial iron overload, and should be taken into account in the differential diagnosis of hereditary or congenital hyperferritinaemias.

Bibliography

Cazzola, M., Cremonesi, L., Papaioannou, M., Soriani, N., Kioumi, A., Charalambidou, A., Paroni, R., Romtsou, K., Levi, S., Ferrari, M., Arosio, P., & Christakis, J. (2002). Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3). British Journal of Haematology, 119(2), 539â546. Portico.

Authors 12

Mario Cazzola (first)
Laura Cremonesi (additional)
Maria Papaioannou (additional)
Nadia Soriani (additional)
Anna Kioumi (additional)
Anastasia Charalambidou (additional)
Rita Paroni (additional)
Katerina Romtsou (additional)
Sonia Levi (additional)
Maurizio Ferrari (additional)
Paolo Arosio (additional)
John Christakis (additional)

References 21 Referenced 62

10.1074/jbc.275.20.15166
{'key': 'e_1_2_16_3_1', 'article-title': 'Hereditary hyperferritinaemia/cataract syndrome', 'volume': '15', 'author': 'Cazzola M.', 'year': '2002', 'journal-title': "Baillière's Best Practice and Research Clinical Haematology"} / Baillière's Best Practice and Research Clinical Haematology / Hereditary hyperferritinaemia/cataract syndrome by Cazzola M. (2002)
10.1182/blood.V90.2.814 / Blood / Hereditary hyperferritinemia–cataract syndrome: relationship between phenotypes and specific mutations in the iron‐responsive element of ferritin light‐chain mRNA by Cazzola M. (1997)
10.1046/j.0007-1048.2001.03310.x
10.1093/clinchem/47.3.491 / Clinical Chemistry / Double‐gradient denaturing gradient gel electrophoresis assay for identification of l‐ferritin iron‐responsive element mutations responsible for hereditary hyperferritinemia‐cataract syndrome: identification of the new mutation C14G by Cremonesi L. (2001)
10.1182/blood-2001-11-0132
10.1038/35001596
10.1182/blood.V74.2.844.844 / Blood / Model of reticuloendothelial iron metabolism in humans: abnormal behavior in idiopathic hemochromatosis and in inflammation by Fillet G. (1989)
10.1056/NEJM198206243062504
10.1172/JCI13739
10.1182/blood.V64.4.763.763 / Blood / Transferrin: physiologic behavior and clinical implications by Huebers H.A. (1984)
10.1086/321261
10.1006/bcmd.2001.0445
10.1056/NEJM197405302902201
10.1007/s004390050167
10.1172/JCI200113468
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10.1182/blood-2002-03-0693
10.1182/blood.V99.10.3505
10.1182/blood.V100.2.692
10.1002/humu.1130

Dates

Type	When
Created	22 years, 5 months ago (March 11, 2003, 1:48 a.m.)
Deposited	1 year, 10 months ago (Oct. 15, 2023, 10:39 a.m.)
Indexed	1 year ago (Aug. 29, 2024, 9:51 a.m.)
Issued	22 years, 10 months ago (Oct. 30, 2002)
Published	22 years, 10 months ago (Oct. 30, 2002)
Published Online	22 years, 10 months ago (Oct. 30, 2002)
Published Print	22 years, 10 months ago (Nov. 1, 2002)

Funders 0

None

BibTeX

@article{Cazzola_2002, title={Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3)}, volume={119}, ISSN={1365-2141}, url={http://dx.doi.org/10.1046/j.1365-2141.2002.03946.x}, DOI={10.1046/j.1365-2141.2002.03946.x}, number={2}, journal={British Journal of Haematology}, publisher={Wiley}, author={Cazzola, Mario and Cremonesi, Laura and Papaioannou, Maria and Soriani, Nadia and Kioumi, Anna and Charalambidou, Anastasia and Paroni, Rita and Romtsou, Katerina and Levi, Sonia and Ferrari, Maurizio and Arosio, Paolo and Christakis, John}, year={2002}, month=oct, pages={539–546} }

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