Causes of iron overload in blood donors - a clinical study
Autor: | J. L. Marott, Karin Magnussen, L. Friis-Hansen, T. O. Hansen, A. H. Laursen, O. W. Bjerrum |
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Rok vydání: | 2017 |
Předmět: |
Adult
Male Iron Overload Genotype Population Transferrin receptor Blood Donors medicine.disease_cause GPI-Linked Proteins 03 medical and health sciences 0302 clinical medicine Hepcidins Mutation Rate Hepcidin Medicine Humans Medical history education Hemochromatosis Protein Gene Cation Transport Proteins Aged education.field_of_study Mutation biology business.industry Hematology General Medicine Middle Aged Ferritin 030220 oncology & carcinogenesis Immunology biology.protein 030211 gastroenterology & hepatology Female HAMP Hemochromatosis business |
Zdroj: | Vox sanguinis. 113(2) |
ISSN: | 1423-0410 |
Popis: | BACKGROUND AND OBJECTIVES Despite the obligate iron loss from blood donation, some donors present with hyperferritinaemia that can result from a wide range of acute and chronic conditions including hereditary haemochromatosis (HH). The objective of our study was to investigate the causes of hyperferritinaemia in the blood donor population and explore the value of extensive HH mutational analyses. MATERIALS AND METHODS Forty-nine consecutive donors (f = 6, m = 43) were included prospectively from the Capital Regional Blood Center. Inclusion criteria were a single ferritin value >1000 μg/l or repeated hyperferritinaemia with at least one value >500 μg/l. All donors were questioned about their medical history and underwent a physical examination, biochemical investigations and next-generation sequencing of HH-related genes, including the HFE gene, the haemojuvelin gene (HFE2/HJV), the hepcidin gene (HAMP), the ferroportin 1 gene (SLC40A1) and the transferrin receptor 2 gene (TFR2). RESULTS Forty of 49 donors were mutation positive with a combined 69 mutations, 54 of which were located in the HFE gene. There were 11 mutations in the TFR2 gene, two mutations in the HFE2 gene and two mutations in the HAMP gene. Only four donors had apparent alternative causes of hyperferritinaemia. CONCLUSION HH-related mutations were the most frequent cause of hyperferritinaemia in a Danish blood donor population, and it appears that several different HH-genotypes can contribute to hyperferritinaemia. HH screening in blood donors with high ferritin levels could be warranted. HH-related iron overload should not in itself result in donor ineligibility. |
Databáze: | OpenAIRE |
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