Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype

Although guidelines are available for hereditary hemochromatosis, a high percentage of the recommendations within them are not shared between the different guidelines. Our main aim is to provide an objective, simple, brief, and practical set of recommendations about therapeutic aspects of HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype, based on the published scientific studies and guidelines, in a form that is reasonably comprehensible to patients and people without medical training. This final version was approved at the Hemochromatosis International meeting on 12th May 2017 in Los Angeles

Influence of Bacteriuria on the Determination of Urinary Albumin Excretion Rate

Peer Reviewe

Oral Iron Prophylaxis in Pregnancy: Not Too Little and Not Too Much!

An adequate supply of iron is essential for normal development of the fetus and newborn child. Iron deficiency and iron deficiency anemia (IDA) during pregnancy increase the risk of preterm birth and low birth weight. Iron is important for development of the fetal brain and cognitive abilities of the newborn. Children born to iron-deficient mothers will start their lives suffering from iron deficiency or even IDA. Oral iron prophylaxis to pregnant women improves iron status and prevents development of IDA. The Danish National Board of Health has since 1992 recommended prophylactic oral iron supplements to all pregnant women and the currently advocated dose is 40–50 mg ferrous iron taken between meals from 10 weeks gestation to delivery. However, 30–40 mg ferrous iron is probably an adequate dose in most affluent societies. In developed countries, individual iron prophylaxis guided by iron status (serum ferritin) has physiological advantages compared to general iron prophylaxis. In contrast, in most developing countries, general iron prophylaxis is indicated, and higher doses of oral iron, for example, 60 mg ferrous iron or even more should be recommended, according to the present iron status situation in the specific populations of women of fertile age and pregnant women

Dietary Iron Intake in Pregnant Women in Europe: A Review of 24 Studies from 14 Countries in the Period 1991–2014

Objective. Assessment of dietary iron intake in pregnant women in Europe. Design. Review. Setting. Literature search of dietary surveys reporting the intake of dietary iron using the PubMed and Google Scholar databases covering the years 1990–2019. Subjects. Healthy pregnant women. Results. 24 dietary surveys/studies in 14 European countries were included. Nine studies (38%) used Food Frequency Questionnaires, which yielded significantly higher iron intake than studies using Dietary Records. Results from Dietary Record studies in 11 countries showed that iron intake varied between 8.3–15.4 mg/day with an estimated “median” value of 10–11 mg/day. Spain, Bosnia, and Poland reported an intake of 8.3–10.1 mg/day, Croatia, England, Norway, and Finland an intake of 10.2–11.4 mg/day, and Germany, Portugal, Czech Republic, and Greece an intake of 12.2–15.4 mg/day. The recommended iron intake in the various countries varied from 14.8–30 mg/day. In all studies, 60–100% of the women had a dietary iron intake below the recommended intake. Conclusions. In Europe, the majority of pregnant women have a dietary iron intake, which is markedly below the recommended intake. This contributes to a low iron status in many pregnant women. Most guidelines do not advice routine iron supplements, while two guidelines (World Health Organization and Nordic Nutrition Recommendations) recommend routine iron supplementation during pregnancy. Within the European community, we need to reach consensus on the various guidelines and on the issue of iron supplementation. We should establish common European standardized dietary methods, uniform Dietary Reference Values, and uniform statistical methods in order to perform more reliable comparisons between studies in different countries

A Review of Nutrients and Compounds, Which Promote or Inhibit Intestinal Iron Absorption: Making a Platform for Dietary Measures That Can Reduce Iron Uptake in Patients with Genetic Haemochromatosis

Objective. To provide an overview of nutrients and compounds, which influence human intestinal iron absorption, thereby making a platform for elaboration of dietary recommendations that can reduce iron uptake in patients with genetic haemochromatosis. Design. Review. Setting. A literature search in PubMed and Google Scholar of papers dealing with iron absorption. Results. The most important promoters of iron absorption in foods are ascorbic acid, lactic acid (produced by fermentation), meat factors in animal meat, the presence of heme iron, and alcohol which stimulate iron uptake by inhibition of hepcidin expression. The most important inhibitors of iron uptake are phytic acid/phytates, polyphenols/tannins, proteins from soya beans, milk, eggs, and calcium. Oxalic acid/oxalate does not seem to influence iron uptake. Turmeric/curcumin may stimulate iron uptake through a decrease in hepcidin expression and inhibit uptake by complex formation with iron, but the net effect has not been clarified. Conclusions. In haemochromatosis, iron absorption is enhanced due to a decreased expression of hepcidin. Dietary modifications that lower iron intake and decrease iron bioavailability may provide additional measures to reduce iron uptake from the foods. This could stimulate the patients’ active cooperation in the treatment of their disorder and reduce the number of phlebotomies

Distinction Between Homozygous and Heterozygous Subjects with Hereditary Haemochromatosis Using Iron Status Markers and Receiver Operating Characteristic (ROC) Analysis

Peer Reviewe

Diagnosis and Treatment of Genetic HFE-Hemochromatosis: The Danish Aspect

This paper outlines the Danish aspects of HFE-hemochromatosis, which is the most frequent genetic predisposition to iron overload in the five million ethnic Danes; more than 20,000 people are homozygous for the C282Y mutation and more than 500,000 people are compound heterozygous or heterozygous for the HFE-mutations. The disorder has a long preclinical stage with gradually increasing body iron overload and eventually 30% of men will develop clinically overt disease, presenting with symptoms of fatigue, arthralgias, reduced libido, erectile dysfunction, cardiac disease and diabetes. Subsequently the disease may progress into irreversible arthritis, liver cirrhosis, cardiomyopathy, pancreatic fibrosis and osteoporosis. The effective standard treatment is repeated phlebotomies, which in the preclinical and early clinical stages ensures a normal survival rate. Early detection of the genetic predisposition to the disorder is therefore important to reduce the overall burden of clinical disease. Population screening seems to be cost-effective and should be considered.This study was supported by unrestricted grants from The Danish Haemochromatosis Association (Dansk Haemokromatose Forening) www.haemokromatose.dk and Pharmovital ApS, Rosenkaeret 11B, DK-2860 Soeborg, Denmark.publishedVersio