HFE -associated hereditary hemochromatosis: Overview of genetics and clinical implications for nurse practitioners in primary care settings

Emanuele, Donna; Tuason, Ivy; Edwards, Quannetta T.

doi:10.1002/2327-6924.12106

Cited by 8 publications

(6 citation statements)

References 26 publications

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“…The functional consequences of such a decrease in RBC deformability include heightened risk for microvascular disease and organ damage, given that nutrient delivery to distal tissues may be impaired [ 23 , 24 ]. Previous studies have demonstrated that HFE-HH is closely associated with venous disease [ 25 ], and iron deposition in various tissues is closely associated with organ damage and failure [ 26 ]. Thus, altered RBC deformability may be implicit in some of the co-morbidities that accompany HFE-HH.…”

Section: Discussionmentioning

confidence: 99%

Acute Free-Iron Exposure Does Not Explain the Impaired Haemorheology Associated with Haemochromatosis

et al. 2016

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IntroductionGiven the severity of the current imbalance between blood donor supply and recipient demand, discarded blood drawn from the routine venesections of haemochromatosis (HFE-HH) patients may serve as a valuable alternative source for blood banks and transfusion. We investigated whether functional or biochemical differences existed between HFE-HH and control blood samples, with particular focus upon the haemorheological properties, to investigate the viability of venesected blood being subsequently harvested for blood products.MethodsBlood samples were collected from HFE-HH patients undergoing venesection treatment (n = 19) and healthy volunteers (n = 8). Moreover, a second experiment investigated the effects of a dose-response of iron (0, 40, 80, 320 mM FeCl3) on haemorheology in healthy blood samples (n = 7). Dependent variables included basic haematology, iron status, haematocrit, red blood cell (RBC) aggregation (native and standardised haematocrit) and “aggregability” (RBC tendency to aggregate in a standard aggregating medium; 0.4 L/L haematocrit in a Dx70), and RBC deformability.ResultsIndices of RBC deformability were significantly decreased for HFE-HH when compared with healthy controls: RBC deformability was significantly decreased at 1–7 Pa (p < 0.05), and the shear stress required for half maximal deformability was significantly increased (p < 0.05) for HFE-HH. RBC aggregation in plasma was significantly increased (p < 0.001) for HFE-HH, although when RBC were suspended in plasma-free Dx70 no differences were detected. No differences in RBC deformability or RBC aggregation/aggregability were detected when healthy RBC were incubated with varying dose of FeCl3.ConclusionHFE-HH impairs the haemorheological properties of blood; however, RBC aggregability was similar between HFE-HH and controls when cells were suspended in a plasma-free medium, indicating that plasma factor(s) may explain the altered haemorheology in HFE-HH patients. Acute exposure to elevated iron levels does not appear (in isolation) to account for these differences. Further consideration is required prior to utilising routine venesection blood for harvesting RBC concentrates due to the potential risk of microvascular disorders arising from impaired haemorheology.

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Section: Discussionmentioning

confidence: 99%

Acute Free-Iron Exposure Does Not Explain the Impaired Haemorheology Associated with Haemochromatosis

et al. 2016

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“…Inappropriately elevated serum hepcidin may reduce duodenal iron absorption, which further increases colonic adenocarcinoma iron exposure in CRC patients (Pusatcioglu et al, 2014 ). Hereditary hemochromatosis, a genetic disorder of iron overload, generally harbors inappropriately elevated intestinal iron absorption (Emanuele et al, 2014 ). In HFE-associated hereditary hemochromatosis, mutations in the HFE gene disrupt the synthesis of hepcidin (Osborne et al, 2010 ).…”

Section: Iron Is Implicated In a Variety Of Cancer Typesmentioning

confidence: 99%

Iron homeostasis and tumorigenesis: molecular mechanisms and therapeutic opportunities

Zhang

2014

Protein Cell

124

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Excess iron is tightly associated with tumorigenesis in multiple human cancer types through a variety of mechanisms including catalyzing the formation of mutagenic hydroxyl radicals, regulating DNA replication, repair and cell cycle progression, affecting signal transduction in cancer cells, and acting as an essential nutrient for proliferating tumor cells. Thus, multiple therapeutic strategies based on iron deprivation have been developed in cancer therapy. During the past few years, our understanding of genetic association and molecular mechanisms between iron and tumorigenesis has expanded enormously. In this review, we briefly summarize iron homeostasis in mammals, and discuss recent progresses in understanding the aberrant iron metabolism in numerous cancer types, with a focus on studies revealing altered signal transduction in cancer cells.

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“…For this reason, the set of KI’s can be used by different health care professionals, i.e. physicians (hepatogastroenterologists, hematologists, rheumatologists, general practitioners, …) as well as advanced nurse practitioners [ 22 ].…”

Section: Discussionmentioning

confidence: 99%

Key-interventions derived from three evidence based guidelines for management and follow-up of patients with HFE haemochromatosis

Vanclooster

Wollersheim

Vanhaecht

et al. 2016

BMC Health Serv Res

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BackgroundHFE-related hereditary haemochromatosis (HH) is a common autosomal recessive disorder with clinical manifestations ranging from asymptomatic disease to possible life-threatening complications. Cirrhosis, hepatocellular carcinoma, diabetes mellitus or osteoporosis can develop in HH patients not treated or monitored optimally. The purpose of this study was to develop key-interventions (KI’s) to measure and improve the quality of care delivered to patients diagnosed with HH.MethodsA RAND-Modified Delphi method was used to develop KI’s. In the first round of a scoring form to prioritize the recommendations extracted from evidence-based guidelines was circulated between experts. The results of this survey were discussed in a consensus meeting, followed by a final appraisal of the selected recommendations. This resulted in a list of measurable KI’s.ResultsInitially, 41 key recommendations on screening, diagnosis and treatment/management were extracted from three existing guidelines on HH (European Association for the Study of the Liver, American Association for the Study of Liver Diseases and Dutch guideline on HH). Finally, a core set of 24 recommendations resulted in 15 KI’s.ConclusionsThis manuscript presents the results of the process to develop KI’s to measure and improve the quality of care for patients with HH.Electronic supplementary materialThe online version of this article (doi:10.1186/s12913-016-1835-2) contains supplementary material, which is available to authorized users.

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HFE -associated hereditary hemochromatosis: Overview of genetics and clinical implications for nurse practitioners in primary care settings

Cited by 8 publications

References 26 publications

Acute Free-Iron Exposure Does Not Explain the Impaired Haemorheology Associated with Haemochromatosis

Acute Free-Iron Exposure Does Not Explain the Impaired Haemorheology Associated with Haemochromatosis

Iron homeostasis and tumorigenesis: molecular mechanisms and therapeutic opportunities

Key-interventions derived from three evidence based guidelines for management and follow-up of patients with HFE haemochromatosis

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