Forskning
Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Causes of iron overload in blood donors - a clinical study

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Impact of long-term storage of plasma and cell-free DNA on measured DNA quantity and fetal fraction

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. External quality assessment of noninvasive fetal RHD genotyping

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Life events and donor lapse among blood donors in Denmark

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Noninvasive fetal RHD genotyping to guide targeted anti-D prophylaxis-an external quality assessment workshop

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Breast cancer survival in Nordic BRCA2 mutation carriers-unconventional association with oestrogen receptor status

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Ruxolitinib and interferon-α2 combination therapy for patients with polycythemia vera or myelofibrosis: a phase II study

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

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.

OriginalsprogEngelsk
TidsskriftVox Sanguinis
Vol/bind113
Udgave nummer2
Sider (fra-til)110-119
ISSN0042-9007
DOI
StatusUdgivet - 2018

ID: 52188874