Detection of HFE Haemochromatosis in the clinic and community using standard erythrocyte tests.
Abstract
Detection of HFE Haemochromatosis (HH) is challenging in the absence of clinical features. HH subjects have elevated erythrocyte parameters compared to those without HH, but it remains unclear how this could be applied in clinical practice. Thus, we determined the sensitivity, specificity and clinical utility of erythrocyte parameters in 144 HH subjects with (n = 122) or without (n = 22) clinical and/or biochemical expression of iron overload, 1844 general population controls, and 700 chronic disease subjects. For both expressing and non-expressing HH subjects, the mean pre- and post-phleb...
Source: Blood Cells, Molecules and Diseases - October 10, 2018 Category: Hematology Authors: Adris N, Hazeldine S, Bentley P, Trinder D, Chua ACG, Powell LW, Ramm LE, Ramm GA, Olynyk JK Tags: Blood Cells Mol Dis Source Type: research
[Neonatal haemochromatosis: 10 years into a paradigm shift].
PMID: 30292726 [PubMed - as supplied by publisher] (Source: Anales de Pediatria)
Source: Anales de Pediatria - October 3, 2018 Category: Pediatrics Authors: García Victori E, Mañas R, Castilla Fernández Y, Ruiz Campillo CW, Castillo Salinas F Tags: An Pediatr (Barc) Source Type: research
Variable workup calls for guideline development for type 2A hereditary haemochromatosis.
CONCLUSION: Three genetic variants caused type 2A HH in six families. Clinical diagnosis was delayed in two subjects. We observed variance in presentation, workup, follow-up and treatment. We found new complications in long-term iron-depleted patients. We recommend research and guidelines for optimal workup, follow-up and treatment of type 2A HH.
PMID: 30362946 [PubMed - in process] (Source: The Netherlands Journal of Medicine)
Source: The Netherlands Journal of Medicine - October 1, 2018 Category: General Medicine Authors: Smit SL, Peters TMA, Gisbertz IAM, Moolenaar W, Hendriks Y, Vincent HH, Houtsma D, Loosveld OJL, van Herwaarden AE, Rennings AJM, Swinkels DW Tags: Neth J Med Source Type: research
Can two ‐dimensional speckle tracking echocardiography be useful for left ventricular assessment in the early stages of hereditary haemochromatosis?
Echocardiography, EarlyView. (Source: Echocardiography)
Source: Echocardiography - September 26, 2018 Category: Cardiology Authors: Katarzyna Rozwadowska,
Ludmi ła Daniłowicz‐Szymanowicz,
Marcin Fijałkowski,
Katarzyna Sikorska,
Rafał Gałąska,
Dariusz Kozłowski,
Marcin Gruchała,
Grzegorz Raczak Source Type: research
Haemochromatosis arthropathy - a conundrum of the Celtic curse.
Authors: Kiely PD
Abstract
Genetic haemochromatosis is an autosomal recessive disorder, mostly due to HFE gene mutation, leading to loss of hepcidin and unregulated iron loading. The consequences include hepatic fibrosis, cardiomyopathy and skin pigmentation, and these sequelae along with fatigue may be prevented by 'de-ironing'. Joint pain is frequently reported at diagnosis and an arthropathy that is essentially accelerated osteoarthritis may develop, with onset at a younger than expected age, involvement of typical and atypical joints, such as metacarpophalangeal and ankle, exuberant osteophytes and rap...
Source: Journal of the Royal College of Physicians of Edinburgh - September 8, 2018 Category: General Medicine Tags: J R Coll Physicians Edinb Source Type: research
Does early seronegative arthritis develop into rheumatoid arthritis? A 10-year observational study.
CONCLUSIONS: Over a 10-year follow-up period, reclassification revealed significant heterogeneity in the diagnosis of seronegative RA. Therefore, seronegative arthritis should not be studied as a homogenous entity.
PMID: 29998832 [PubMed - as supplied by publisher] (Source: Clinical and Experimental Rheumatology)
Source: Clinical and Experimental Rheumatology - July 14, 2018 Category: Rheumatology Tags: Clin Exp Rheumatol Source Type: research
Simultaneous presentation of hereditary hyperferritinaemia cataract syndrome and hereditary haemochromatosis
Clinical&Experimental Ophthalmology, EarlyView. (Source: Clinical and Experimental Ophthalmology)
Source: Clinical and Experimental Ophthalmology - May 29, 2018 Category: Opthalmology Authors: Katia A
Maccora
MBBS (IV)
,
Emmanuelle
Souzeau
PhD
,
Jonathan B
Ruddle
FRANZCO
,
Jamie E
Craig
DPhil FRANZCO Source Type: research
Haemochromatosis: a clinical update for the practising physician
Internal Medicine Journal,Volume 48, Issue 5, Page 509-516, May 2018. (Source: Internal Medicine Journal)
Source: Internal Medicine Journal - May 3, 2018 Category: Internal Medicine Authors: Daniel E.
Radford ‐Smith
,
Elizabeth E.
Powell
,
Lawrie W.
Powell Source Type: research
Sa1077 - Biochemical and Clinical Penetrance of Hereditary Haemochromatosis in C282Y Homozygotes
(Source: Gastroenterology)
Source: Gastroenterology - May 1, 2018 Category: Gastroenterology Authors: Dennis R. Lim, Mark Borgaonkar Tags: AGA Abstracts Source Type: research
Diagnosis and therapy of genetic haemochromatosis (review and 2017 update)
British Journal of Haematology, EarlyView. (Source: British Journal of Haematology)
Source: British Journal of Haematology - April 17, 2018 Category: Hematology Authors: Edward J. Fitzsimons
,
Jonathan O. Cullis
,
Derrick W. Thomas
,
Emmanouil Tsochatzis
,
William J. H. Griffiths
, on behalf of Source Type: research
Haemochromatosis: Pathophysiology and the red blood cell1.
Abstract
Haemochromatosis remains the most prevalent genetic disorder of Caucasian populations in Australia and the United States, occurring in ∼1 of 200 individuals and having a carrier frequency of 10-14%. Hereditary haemochromatosis is an autosomal recessive condition, that is phenotypically characterised by a gradual accumulation of iron, above and beyond that required for biological function. Once the binding capacity of iron carriers reaches saturation, the highly reactive free iron generates radicals that may lead to widespread cellular dysfunction. Thus, the compounding effects of systemic iron o...
Source: Clinical Hemorheology and Microcirculation - April 7, 2018 Category: Hematology Authors: Richardson KJ, McNamee AP, Simmonds MJ Tags: Clin Hemorheol Microcirc Source Type: research
Reduction of body iron in HFE-related haemochromatosis and moderate iron overload (Mi-Iron): a multicentre, participant-blinded, randomised controlled trial
This study was a multicentre, participant-blinded, randomised controlled trial done at three centres in Australia. We enrolled people who were homozygous for HFE p.Cys282Tyr, aged between 18 and 70 years, with moderately elevated serum ferritin, defined as 300–1000 μg/L, and raised transferrin saturation. Participants were randomly assigned, via a computer-generated random number, to undergo either iron reduction by erythrocytapheresis (treatment group) or sham treatment by plasmapheresis (control group). Randomisation was stratified by baseline serum ferritin (<600 μg/L or ≥600 μg/L), sex, and study site. Er...
Source: The Lancet Haematology - December 11, 2017 Category: Hematology Source Type: research
Comment on: Hereditary haemochromatosis arthropathy and Doppler ultrasound findings of synovitis: reply
Sir, we thank Konstantinos Parperis for his interest in our article ‘Hereditary haemochromatosis (HH) and Doppler ultrasound findings of synovitis’ [1,2]. In his comment, he suggests that the Doppler synovitis occurs due to coexistent deposition of calcium pyrophosphate dihydrate (CPPD) crystals. Though we did not observe evidence (either sonographically or radiologically) of CPPD crystals in either of the cases that we presented, we are grateful for the opportunity to discuss this possibility, which was omitted from a draft version of our report for brevity. (Source: Rheumatology)
Source: Rheumatology - December 7, 2017 Category: Rheumatology Source Type: research
Comment on: Hereditary hemochromatosis arthropathy and Doppler ultrasound findings of synovitis
Sir, I read with interest the letter to the editor by Okeet al. [1] ‘Hereditary hemochromatosis arthropathy and Doppler ultrasound findings of synovitis’. The authors reported two interesting cases of patients with hereditary haemochromatosis that were found to have increased Doppler signal on US examination due to synovitis [1]. A possible explanation of their observation is the presence of calcium pyrophosphate dihydrate crystal deposition disease (CPPD), which has been strongly associated with haemochromatosis [2,3]. A previous study demonstrated that 66% of patients with CPPD had sonographic hypervascularization of...
Source: Rheumatology - December 7, 2017 Category: Rheumatology Source Type: research
Role of liver magnetic resonance imaging in hyperferritinaemia and the diagnosis of iron overload.
Abstract
Hyperferritinaemia is a frequent clinical problem. Elevated serum ferritin levels can be detected in different genetic and acquired diseases and can occur with or without anaemia. It is therefore important to determine whether hyperferritinaemia is due to iron overload or due to a secondary cause. The main causes of iron overload are intestinal iron hyperabsorption disorders and transfusion-dependent disorders. Iron homeostasis and iron overload are quantified by different diagnostic approaches. The evaluation of serum ferritin and transferrin saturation is the first diagnostic step to identify th...
Source: Swiss Medical Weekly - November 9, 2017 Category: General Medicine Authors: Ruefer A, Bapst C, Benz R, Bremerich J, Cantoni N, Infanti L, Samii K, Schmid M, Vallée JP Tags: Swiss Med Wkly Source Type: research
