Using iron studies to predict
HFE
mutations in New Zealand: implications for laboratory testing
ConclusionOur analysis highlights the need for clear guidelines for investigation of hyperferritinaemia and HH in New Zealand. Using our findings, we developed an evidence‐based laboratory testing algorithm based on a TS ≥45%, a SF ≥1000 µg/L and/or a family history of HH which identified all C282Y homozygotes in this study. (Source: Internal Medicine Journal)
Source: Internal Medicine Journal - April 11, 2017 Category: Internal Medicine Authors: Rebecca O'Toole, Kenneth Romeril, Collette Bromhead Tags: Original Article Source Type: research
Hereditary hemochromatosis arthropathy and Doppler ultrasound findings of synovitis
Rheumatology key messageMiddle metacarpophalangeal joint synovitis on ultrasound is present in hereditary haemochromatosis and could be mistaken for early RA. (Source: Rheumatology)
Source: Rheumatology - March 22, 2017 Category: Rheumatology Source Type: research
Diabetes remission after bariatric surgery in obese patients with haemochromatosis.
PMID: 28314670 [PubMed - as supplied by publisher] (Source: Diabetes and Metabolism)
Source: Diabetes and Metabolism - March 14, 2017 Category: Endocrinology Authors: Phan F, Vatier C, Vauloup-Soupault C, Poitou C, Bouillot JL, Oppert JM, Aron-Wisnewsky J Tags: Diabetes Metab Source Type: research
Interventions for hereditary haemochromatosis: an attempted network meta-analysis.
CONCLUSIONS: There is currently insufficient evidence to determine whether erythrocytapheresis is beneficial or harmful compared with phlebotomy. Phlebotomy has less equipment requirements and remains the treatment of choice in people with hereditary haemochromatosis who require blood letting in some form. However, it should be noted that there is no evidence from randomised clinical trials that blood letting in any form is beneficial in people with hereditary haemochromatosis. Having said this, a trial including no treatment is unlikely to be conducted. Future trials should compare different frequencies of phlebotomy and ...
Source: Cochrane Database of Systematic Reviews - March 7, 2017 Category: Journals (General) Authors: Buzzetti E, Kalafateli M, Thorburn D, Davidson BR, Tsochatzis E, Gurusamy KS Tags: Cochrane Database Syst Rev Source Type: research
Performing therapeutic venesection in a doctor's surgery.
This article briefly reviews the pathophysiology of these conditions, and the rationale and goals of therapeutic venesection as a treatment modality. It also summarises the venesection procedure itself and the considerations for setting up a venesection service in a doctor's surgery.
DISCUSSION: Venesection is generally safe and carries few side effects. Before commencing therapeutic venesection, management goals in terms of laboratory parameters should be set for individual patients. These patients should be monitored regularly so that set targets are met and not overshot as to render them anaemic and acutely symp...
Source: Australian Family Physician - February 28, 2017 Category: Primary Care Authors: Hy L, Ho HW Tags: Aust Fam Physician Source Type: research
TFR2-related haemochromatosis in the Netherlands: a cause of arthralgia in young adulthood.
CONCLUSION: In patients with a combination of elevated TSAT and ferritin in the absence of anaemia, and after exclusion of HFE-related HH, rare forms of HH should be considered. In these cases, presentation with arthralgia in young adulthood, low hepcidin/ferritin ratio and/or liver iron content > 100 μmol/g form an indication for analysis of the TFR2 gene. Although type 3 HH is extremely rare, awareness of the disease among physicians is important in order to achieve an early diagnosis and prevent complications, such as liver damage.
PMID: 28276324 [PubMed - in process] (Source: The Netherlands Journal of Medicine)
Source: The Netherlands Journal of Medicine - February 28, 2017 Category: Journals (General) Authors: Peters TM, Meulders AF, Redert K, Cuijpers ML, Rennings AJ, Janssen MC, Blijlevens NM, Swinkels DW Tags: Neth J Med Source Type: research
Liver Failure in Early Infancy: Aetiology, Presentation, and Outcome
Conclusion: ALF should be considered in any young infant with a coagulopathy as transaminases and/or bilirubin levels can be near normal at presentation. Better intensive care and the judicious use of liver transplantation may have contributed to the improved outcomes for this group compared with previous decades. (Source: Journal of Pediatric Gastroenterology and Nutrition)
Source: Journal of Pediatric Gastroenterology and Nutrition - December 29, 2016 Category: Gastroenterology Tags: Original Articles: Hepatology Source Type: research
Cost-Effectiveness of Different Population Screening Strategies for Hereditary Haemochromatosis in Australia
ConclusionThis model estimated that genotyping and TfS strategies are likely to be more cost-effective screening strategies than the status quo. (Source: Applied Health Economics and Health Policy)
Source: Applied Health Economics and Health Policy - December 28, 2016 Category: Health Management Source Type: research
Patients with haemoglobinopathies and chronic hepatitis c: a really difficult to treat population in 2016?
Conclusions: More than 1/3 of patients with haemoglobinopathies suffered from CHC. Response rates to antiviral treatment seem to be similar to other patients with CHC, while treatment with DAAs was very effective and safe even in difficult to treat patients (most null responders with severe fibrosis) suggesting that this group of HCV patients should no longer be regarded as a difficult to treat. (Source: Mediterranean Journal of Hematology and Infectious Diseases)
Source: Mediterranean Journal of Hematology and Infectious Diseases - December 26, 2016 Category: Hematology Source Type: research
Hereditary haemochromatosis presenting with diabetic ketoacidosis
(Source: QJM)
Source: QJM - December 16, 2016 Category: Internal Medicine Authors: Adam, S., Grecian, S., Syed, A. A. Tags: Case reports Source Type: research
Nutritional koilonychia in 32 Iraqi subjects
Koilonychia is taught to medical studients as a sign of iron deficiency anaemia.1,2 Koilonychia literally means " hollow nails " (Greek), i.e. spooning. However, flattening of nails is accepted as an early stage of koilonychia; thinning and softening of nails is commonly associated.3-6 In developed well-noursihed communities, koilonychia is rare,4 although it is reported occasionally in association with non-nutritional deficiency states,7-10 as a familial condition11-13 and in association with several dskin disease.14 Reports of as few as two cases8,9,13 stand as testimony of its rarity. However, in malnourished comm...
Source: Annals of Saudi Medicine - December 6, 2016 Category: Journals (General) Tags: ISSUE 2 Source Type: research
Hereditary haemochromatosis through 150 years.
PMID: 28004554 [PubMed - in process] (Source: Tidsskrift for den Norske Laegeforening)
Source: Tidsskrift for den Norske Laegeforening - November 30, 2016 Category: Journals (General) Authors: Ulvik RJ Tags: Tidsskr Nor Laegeforen Source Type: research
Using iron studies to predict hfe mutations in new zealand: implications for laboratory testing
CONCLUSIONSOur analysis highlights the need for clear guidelines for investigation of hyperferritinaemia and HH in NZ. Using our findings we developed an evidence‐based laboratory testing algorithm based on a TS ≥ 45%, a SF ≥ 1000 µg/L and/or a family history of HH which identified all C282Y homozygotes in this study. (Source: Internal Medicine Journal)
Source: Internal Medicine Journal - November 30, 2016 Category: Internal Medicine Authors: Rebecca O'Toole, Kenneth Romeril, Collette Bromhead Tags: Original Article Source Type: research
Deferasirox pharmacokinetics evaluation in a woman with hereditary haemochromatosis and heterozygous β-thalassaemia.
We present the deferasirox pharmacokinetics evaluation of a female patient on iron chelation, for the interesting findings from her genetic background (hereditary haemochromatosis and heterozygous β-thalassaemia) and clinical history (ileostomy; iron overload from transfusions). Drug plasma concentrations were measured by an HPLC-UV validated method, before and after ileum resection. Area under deferasirox concentration curve over 24h (AUC) values were determined by the mixed log-linear rule, using Kinetica software. AUC was low also with high deferasirox dose as well as tolerability. Non invasive tissue iron quantificati...
Source: Biomedicine and pharmacotherapy = Biomedecine and pharmacotherapie - November 19, 2016 Category: Drugs & Pharmacology Authors: Allegra S, De Francia S, Longo F, Massano D, Cusato J, Arduino A, Pirro E, Piga A, D'Avolio A Tags: Biomed Pharmacother Source Type: research
Genetic explanations, discrimination and chronic illness: A qualitative study on hereditary haemochromatosis in Germany
The objective of this study is to explore the discriminatory impacts of genetic diagnosis for people living with the chronic illness of hereditary haemochromatosis in Germany.
Methods
Semi-structured interviews with 15 patients; all had tested positive for a genetic mutation associated with haemochromatosis and already displayed symptoms of the disease. Inductive approach, with interviews collaboratively interpreted by the research group in a vertical and horizontal analysis informed by a multi-person perspective.
Results
First, as the genetic diagnosis of the disease holds the promise of therapeutic intervention, the in...
Source: Chronic lllness - November 15, 2016 Category: Journals (General) Authors: Manz, U. Tags: Articles Source Type: research
