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In northern Europe, about 90% of patients with hereditary haemochromatosis (HH) are homozygous for a single mutation (C282Y) of the HFE gene and approximately 1 in 150 people in the general population carries this genotype. However, the clinical significance of HFE mutations remains uncertain, as is the proportion of people homozygous for C282Y who will develop clinical symptoms leading to a diagnosis of HH. A systematic review of patients with HH over a 2-year period within a defined UK region has revealed that only 1.2% of adult C282Y homozygotes have been diagnosed with iron overload and received treatment. In those in whom body iron load could be estimated, only 51% has more than 4 g iron (the diagnostic threshold for iron overload). [ABSTRACT FROM AUTHOR]

Objective: Diabetes is highly prevalent in individuals with acute coronary syndrome (ACS). Current NICE guidelines recommend diabetes screening of hyperglycaemic patients using a fasting plasma glucose after 4 days from admission. In 2012 the World Health Organisation (WHO) approved the use of HbA1c in the diagnosis and targeted screening for type 2 diabetes. We introduced a service improvement project using HbA1c for diabetes screening in patients with no previous diagnosis of diabetes admitted with ACS regardless of glycaemic state. Method: An initial retrospective audit utilised 21 months of data from the MINAP database to identify patients meeting current NICE criteria for diabetes screening. A prospective service improvement project was undertaken over a 4 month period using HbA1c as a universal screening test to categorise ACS patients based on WHO criteria. Results: The retrospective audit identified 93 of 420 (22%) patients with pre-existing diabetes and 8 of the remaining 327 (2.4%) were hyperglycaemic, thus meeting NICE criteria for diabetes screening. In the service improvement project 2/49 patients (4%) met NICE criteria for diabetes screening. Twenty six of these 49 patients had a HbA1c test on admission and 17/26 (65.4%) were classified as probable diabetes or high risk. Conclusion: A significant proportion of ACS patients have diabetes, which may be undetected by current NICE criteria. Universal HbA1c testing offers utility as a simple and effective screening test for diabetes in the ACS population. [ABSTRACT FROM AUTHOR]

The article presents a response by the author about his article "Haptoglobin Type Neither Influences Iron Accumilation in Normal Subjects Nor Predicts Clinical Presentation in HFE C282Y Haemochromatosis: Phenotype and Genotype Analysis," published in the "British Journal of Haematology." The author has provided evidence to show that the haptoglobin (Hp) type 2-2 may be associated with iron retention in macrophages and higher serum ferritin concentrations than in other Hp types. Such changes may have long-term consequences resulting from tissue damage due to iron accumulation.

Introduction Non-alcoholic fatty liver disease (NAFLD) is increasingly common with a prevalence of between 20% and 34% in Europe and the US. There is a close association between NAFLD and other features of the metabolic syndrome such as insulin resistance, hypertension and obesity. We investigated liver health in patients with diabetes, and the effect of lifestyle interventions on liver health in newly diagnosed type 2 diabetics. Methods Patients within 5–8 months of diagnosis of diabetes were identified from four centres in the South West of England. All participants received usual care for patients with diabetes. Patients were randomised to usual care alone (UC), additional dietary advice (D) or additional dietary and exercise advice (D&E). LFTs were measured at baseline and twelve months. Results Median age of participants was 61 years, 36% were female. Alcohol intake was modest and did not differ significantly between groups. Modest reductions in BMI and insulin resistance were seen in groups D and D&E: these were not significant. There was no change in blood pressure. At baseline 24 of 424 patients (5.6%) had any abnormality in liver function. At twelve months this was 15 of 212 patients (7.1%). Increased prevalence was seen in all groups except D. Transaminase levels followed the same trend with regard to prevalence at baseline (2.6%) and 12 months (3.7%). AST:ALT ratio (AAR) increased over twelve months with Pearson correlation of 0.92. In patients with abnormal transaminases non-invasive assessment of fibrosis (NAFLD fibrosis score) demonstrated that 20% of patients were at risk of advanced fibrosis at baseline, climbing to 80% at twelve months, without differences between groups. This is 0.5% and 3% of all participants at baseline and twelve months respectively. Conclusion In newly diagnosed diabetes abnormalities of liver function persist in the first year of diagnosis regardless of lifestyle intervention. Estimation of fibrosis in a subgroup of patients demonstrated increased prevalence of advanced fibrosis over twelve months. This is consistent with rising AAR over the same period for the whole group. Longer-term follow up of these patients is required, but initial data are similar to cohorts described elsewhere in the literature, and reflect a significant risk of liver disease in patients with type 2 diabetes. [ABSTRACT FROM PUBLISHER]