Dataset Information

Genetic factors associated with iron storage in Australian blood donors.

ABSTRACT: BACKGROUND:Blood donors are at risk of developing iron deficiency and/or iron deficiency anaemia. This may affect their health and affect their eligibility to give subsequent donations. Investigating genetic factors that may predispose donors to high or low iron stores is of interest; this may assist with providing optimal management strategies for maintaining donor health. This study aimed to investigate whether the presence of selected single nucleotide polymorphisms (SNPs) affecting parameters of iron status were associated with ferritin levels in Australian donors. MATERIALS AND METHODS:Samples (n=800) were collected from non-first-time blood donors in Queensland. Plasma ferritin levels were quantified and the genotypes for ten SNPs, identified by a review of relevant literature, were determined for each sample. Associations between SNPs and ferritin levels were investigated. RESULTS:Three SNPs were associated with ferritin levels. In male donors, high ferritin levels were associated with the variant allele (G) of the SNP rs3923809 in the BTBD9 gene. An association with ferritin levels was also identified with the SNP rs235756 in the BMP2 gene in males. The SNP rs4820268 in the TMPRSS6 gene was associated with ferritin levels in females, with donors with the AG genotype being three times more likely to have low ferritin levels. DISCUSSION:Variants in the genes TMPRSS, BTBD9 and BMP2 were associated with ferritin levels in Australian blood donors. These findings provide support that genetic testing may be useful for the generation of predictive algorithms that may allow for management strategies to be tailor-made for individual donors.

SUBMITTER: Ji Y

PROVIDER: S-EPMC5839608 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Genetic factors associated with iron storage in Australian blood donors.

Ji Yu Y Flower Robert R Hyland Catherine C Saiepour Nargess N Faddy Helen H

Blood transfusion = Trasfusione del sangue 20161221 2

<h4>Background</h4>Blood donors are at risk of developing iron deficiency and/or iron deficiency anaemia. This may affect their health and affect their eligibility to give subsequent donations. Investigating genetic factors that may predispose donors to high or low iron stores is of interest; this may assist with providing optimal management strategies for maintaining donor health. This study aimed to investigate whether the presence of selected single nucleotide polymorphisms (SNPs) affecting p ...[more]

PMID: 28151393

Similar Datasets

Project description:BackgroundThe Indian blood group antigens, In(a) and In(b), are clinically significant in transfusion medicine. However, antisera to type these antigens are difficult to obtain. The In(b) antigen is a high frequency antigen present in all populations, while the frequency of the antithetical In(a) ranges from 0.1% in Caucasians up to 11% in Middle Eastern groups. This antigen polymorphism is encoded by the single nucleotide polymorphism (SNP) 252G>C in CD44. The aim of this study was to establish and compare two genotyping methods to measure the frequency of the IN*A and IN*B alleles in a blood donor cohort.Materials and methodsDonor blood samples (n=151) were genotyped by a novel real-time polymerase chain reaction (PCR) high-resolution meltcurve (HRM) analysis and a custom matrix-assisted laser desorption/ionisation time-of-flight mass spectrometry (MALDI-TOF MS) assay. Samples with the rare IN*A allele were further investigated by nucleotide sequencing, red cell agglutination, and flow cytometry techniques.ResultsIn this study group, 149 IN*B homozygous and 2 IN*A/B heterozygous samples were detected with 100% concordance between HRM and MALDI-TOF MS methods. For PCR HRM, amplicon melting alone did not differentiate IN*A and IN*B alleles (class 3 SNP), however, the introduction of an unlabelled probe (UP) increased the resolution of the assay. Sequencing confirmed that the two non-homozygous samples were IN*A/B heterozygous and phenotyping by red cell agglutination, and flow cytometry confirmed both In(a) and In(b) antigens were present as predicted.DiscussionGenotyping permits conservation of rare antisera to predict blood group antigen phenotype. In PCR UP-HRM the IN*A and IN*B alleles were discriminated on the basis of their melting properties. The In(a) frequency in this selected donor population was 1.3%. Application of genotyping methods such as these assists in identifying donors with rare blood group phenotypes of potential clinical significance.

Dataset Information

Genetic factors associated with iron storage in Australian blood donors.

Publications

Genetic factors associated with iron storage in Australian blood donors.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets