Ann Intern Med 1999;130:953-962. Blood donations can be made at regular intervals, provided the hemoglobin is normal and the patient is not on insulin. ExJade removes more iron than EDTA, and because it's FDA-approved, insurance will pay for it.) Preemptive treatment may prevent the development of phenotypic complications in some diseases (e.g., hereditary hemochromatosis and Wilson's disease), and orthotopic liver transplantation may be curative in others (e.g., alpha1-antitrypsin deficiency and Wilson's disease). Your body needs iron to: Help hemoglobin in blood cells carry oxygen throughout your body. observed a median hemoglobin level of 15.5 mg/dL in their homozygous C282Y population, which is closely reflective of the hemoglobin values reported by our study. HbA1c or what we call in the lab as Glycohemoglobin is a measurement of sugar after 120 days time (3months) because this is the life span of a normal RBC. We do not have accurate predictors of how many of these will go on to develop tissue iron overload, and most specialists currently favor prophylactic phlebotomy in these cases. My husband has hemocromatosis and was diagnosed with a count of over 1600 which has come down very slowly to the 800's. Olynyk JK, Cullen DJ, Aquilia S, et al: A population study of the clinical expression of the hemochromatosis gene. Red blood cells have a finite lifespan in the circulation. High hemoglobin levels are a sign of disease. The symptoms of hereditary hemochromatosis aren't usually obvious until age 40 and usually aren't severe until after age 50. Normally, humans absorb about 8-10% of the iron in foods that they eat. "Alpha-lipoic" acid will work just as well, because it does not have to be absorbed into cells to do its work. At this later point in the development of the condition, usually when there is significant heavy iron overload, patients may reveal marked hepatomegaly, abnormal liver enzyme levels, skin pigmentation resulting both from iron deposition and increased melanin, glucose intolerance, and cardiac signs indicative of a dilated cardiomyopathy, with associated cardiac dysrhythmias and congestive heart failure. J Hepatol 2000;33:485-504. Excess iron is stored in your organs, especially your liver, heart and pancreas. Coronavirus disease-19 (COVID-19) has been regarded as an infective-inflammatory disease, which affects mainly lungs. Can Gastroenterology 2006;20:535-540. It is therefore important to emphasize that the value of liver biopsy is not limited to determination of the HIC. Medical treatment, however, is needed for helping hemochromatosis get better. Finally, the current recommendation is to offer mutation analysis to first-degree relatives of known HH patients, regardless of the phenotypic markers of iron overload. Portable hemoglobinometers may provide a quick and simple measurement of hemoglobin for evaluating the follow-up of tolerance for phlebotomies in patients with HFE-associated hereditary hemochromatosis. So he will still have the high iron level, but they cant take his blood at the moment, taking blood every 2 weeks is less aggressive and gives the body more time to replace components such as Hemoglobin that he will also lose when he has a phlebotomy. Third, with the advent of molecular diagnostic testing, phenotypic assessment of these conditions may be now complemented in certain cases by genotypic evaluation. Among C282Y-homozygous males, the mean hemoglobin decreased by 6.0 g/L (, paired -test). Finally, in several conditions (e.g., α1-AT deficiency, Wilson's disease), liver transplantation corrects the primary biochemical abnormality in the liver and effectively cures the disease. Beutler E, Felitti VJ, Koziol JA, et al: Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA. The aim is to reduce iron stores to a level just short of iron deficiency. Thalassemia: What Every Parent Needs To Know About A Devastating Blood Disorder, High Hemoglobin Levels: Seventeen Reasons Your Hemoglobin Production Is Increased. In a study of 122 patients, hemoglobin levels were measured by a portable hemoglobinometer and a cell counter device. If left untreated, the condition may progress to the stage of iron overload with organ damage (usually at 40 years of age or older, and with more than 20 g of parenchymal iron storage). In other cases, these conditions have to be excluded when faced with nonspecific liver disease abnormalities, such as elevated liver enzyme levels, hepatomegaly, or previously undiagnosed portal hypertension. N Engl J Med 1999;341:755-757. The normal HFE protein is expressed predominantly in the crypt cells of the upper intestine where, in association with the transferrin receptor, it may play a role in sensing the iron status of the body. Hemochromatosis is a surprisingly common genetic disorder that impacts the way that your body handles iron. Primary liver cell cancer accounts for about 30% of all iron-related deaths in HH, with another 20% ascribed to complications of cirrhosis. Haemochromatosis is an inherited condition which results in too much iron being stored in the body. Therefore, the preemptive treatment of asymptomatic patients before these complications develop may play a major role in the reduction of mortality from HH. About one-half of one percent of all people of northern European descent have been diagnosed with the disease [3]. Whitlock EP, Garlitz BA, Harris EL, et al: Screening for hereditary hemochromatosis: Asystematic review for the U.S. Preventive Services Task Force. Hemochromatosis is defined as iron overload affecting the parenchymal cells of the liver and other organs caused either by inherited or acquired (secondary) disorders. Copyright © 2000-2018 The Cleveland Clinic Foundation. i am 53 years old, I have been suffering from dizziness and heart palpitations for many years. Iron is an essential nutrient found in many foods. By altering the food you eat and following a hemochromatosis diet plan, you can reduce the likelihood of complications down the road. The first thing to keep in mind about hereditary hemochromatosis is that as long as your iron levels are high, there is never, ever any reason to take iron supplements. In addition, quantitative iron determination may be made on fresh-frozen or formalin-fixed tissue. In some cases, the awareness of these conditions is brought about by suspicion based on a specific clinical syndrome. N Engl J Med 1999;341:718-724. What is iron, and why do I need it? Iron is a mineral found in certain foods. Fourth, with the availability of effective treatments, there has been a dramatic impact on the prognosis of metabolic liver diseases in both childhood and adult life, further emphasizing the importance of early diagnosis. The genotypic definition is based on a single missense mutation, the so-called C282Y mutation, of the HFE gene on the short arm of chromosome 6, which has a major role in the regulation of iron metabolism. The iron overload disease hemochromatosis can be a matter of genetics, or a complication of treating other diseases. Currently, phlebotomy is a therapeutic procedure, with a coding recognized by the Centers for Medicare and Medicaid Services (formerly the Health Care Finance Administration) and third-party insurers. This is the relatively small circulating iron compartment that appears to be very sensitive to increased dietary iron absorption. Hereditary Hemochromatosis: You Can Have Too Much Iron!? For people who have the disease at the time of diagnosis, life expectancy may be shortened depending upon the disease. Things You Didn't Know About Masturbation, Chronic recurrent multifocal osteomyelitis (CRMO), Difference Between Male And Female Structures (Mental And Physical), Ferritin levels in iron deficiency anemia. Because cirrhosis in its fully developed form is not reversible by iron removal, the potential remains for decompensated liver disease in these individuals and may provide an indication for considering OLT. Here are three natural interventions that can help you get both under control. Haemochromatosis is a medical condition that causes people to absorb too much iron from their diet. In the absence of cofactors such as alcohol or hepatitis, it is rare to see fibrosis or cirrhosis in those younger than 40 years. In situations in which total body iron stores exceed 20 to 30 g, this regimen of phlebotomy may take up to 2 to 3 years to complete. Even without blood transfusions, people who carry the genes for beta-thalassemia tend to carry the genes for hemochromatosis [5]. What is more debatable in light of the available methods for mutation analysis is whether everyone who is a C282Y homozygote will inevitably develop iron overload, with its potential complications. High Hemoglobin Levels During Pregnancy: Is Your Baby at Risk? Liver enlargement (in 13 percent) that sometimes progresses to live cancer, as the toxic effects of oxidating iron accumulate. This has been used as one of the proposed arguments against any recommendation at present for widespread genetic screening for hereditary hemochromatosis. An elevated hemoglobin is common in hemochromatosis. Subsequent studies from other countries have confirmed an average prevalence of C282Y homozygosity of approximately 90% in previously diagnosed HH patients. Phlebotomy of one unit of blood (500 mL) weekly or twice weekly, as tolerated. If your Hemoglobin count is too low they wont do a Phlebotomy as this may cause other problems. Clinical implications of the hemochromatosis gene [editorial]. Adams PC, Chakrabarti S: Genotypic/phenotypic correlations in genetic hemochromatosis: Evolution of diagnostic criteria. These persons are termed compound heterozygotes. Early symptoms such as stiff joints and fatigue may be due to conditions other than hemochromatosis.Many people with the disease don't have any signs or symptoms other than elevated levels of iron in their blood. As the liver disease progresses, portal hypertension with ascites, splenomegaly, and additional cutaneous features of chronic liver disease become apparent. One phlebotomy every 2-3 mo (approximately) to maintain serum ferritin level between 25 and 50 ng/mL. The excess iron in hereditary hemochromatosis comes from excess iron absorption from food and excess iron deposits in the body. The iron-binding capacity of the blood will also be severely limited. Finally, the liver is the most easily accessible tissue for accurately assessing the level of iron stores. The aim of maintenance therapy is to keep the serum ferritin level between 25 and 50 ng/mL, thereby avoiding overt iron deficiency. Although the phenotypic features of elevated iron markers in the serum are seen in the majority of individuals with the homozygous mutations C282Y, particularly males, the classic findings of cirrhosis and bronzed diabetes occur in a variable minority (5% to 10%). Coronary artery disease, even with "good" levels of cholesterol. This build-up of iron, known as iron overload, can cause unpleasant symptoms. There are certain clinical symptoms and signs that may be improved by phlebotomy (e.g., fatigue, malaise, skin pigmentation, abdominal pain, level of insulin requirements in diabetics). Check hematocrit and hemoglobin values before each phlebotomy to ensure that they decrease no more than 20% below starting value. Hemochromatosis is not a cause of significant liver disease. Whether it is phlebotomy once a week, or a newer, now much less expensive medication like ExJade, your best results will come from a combination of the best medical treatment and simply changes in diet and supplementation. Since we have two copies of every gene (one on each of the double helix) of DNA, up to four mutant genes could cause the disease. It is the most common genetic disease in whites. These usually include those younger than 40 years, with no clinical evidence of liver disease (e.g., increased liver enzyme levels, hepatomegaly) whose serum ferritin level is lower than 1000 ng/mL. With the availability of genotypic analysis, it is now apparent that the homozygous state for the mutation does not invariably lead to iron overload. Bacon BR, Powell LW, Adams PC, et al: Molecular medicine and hemochromatosis: At the crossroads. Hepatology 2001;33:1321-1328. Therefore, it is useful to think of the evolution of this clinical condition as a series of stages that begins with clinically insignificant iron accumulation based on the genetic abnormality (from 0 to 20 years of age, 0 to 5 g parenchymal iron storage). Another mutation, H63D, located at the 63 position of the HFE protein, was present in association with the C282Y mutation in approximately 4% of similar populations. 1) from the guidelines adopted by the liver and gastroenterology subspecialty societies proceeds in three steps, beginning with phenotypic evaluation and followed by mutational analysis of those individuals with confirmed elevated serum iron markers. It is now evident that HH is the most common identified mendelian genetic disorder in the white population. High hemoglobin levels during pregnancy and fetal risk, Elevated Liver Enzymes - Possible Hemochromatosis. The second stage in the algorithm is genetic mutation analysis for the C282Y and H63D mutations of the HFE gene. Individuals who are treated before the development of cirrhosis usually have a normal life expectancy. Molecular diagnostic testing has made genotypic evaluation available for some diseases to complement phenotypic diagnosis. The diagnostic algorithm (see Fig. When this mutation is present in both copies of the gene, homozygous HH is said to be present. People with this type absorb too much iron through their digestive tract. It accumulates around the body over time, damaging many organs, including the liver, and eventually causing disease. Ten Ways to Increase Your Hemoglobin Levels Naturally, 5 Things Everyone Needs To Know About Iron And Bone Health, Natural Iron Supplements: Bring Your Hemoglobin and Red Blood Cell Count Levels Up to Normal, Starving Infections Of Iron To Beat Back Disease. Just keep in mind that the kind of iron your body can absorb readily is heme- iron, iron from the hemoglobin in the blood of animals used for meat. This is because glucose accumulates on hemoglobin as the red blood cells circulate. [9] Curcumin, the antioxidant extracted from turmeric (although not turmeric itself), will also bind to iron [10]. Lancet 2002;359:211-218. Gastroenterology 1999;116:193-207. Evidence has suggested that the mutant HFE protein is unable to provide this sensing, therefore “misinforming” the villous cell of the small intestine that iron deficiency might be present. With few exceptions Iron Disorders Institute Advisory Board recommends a pre-treatment hemoglobin of 12.5g/dL. Rather, the documentation of cirrhosis on liver biopsy also has a significant impact on the prognosis in terms of morbidity and mortality in HH patients. All Rights Reserved. Mottling of the skin with grey or rust colored spots. Beutler et al. Take these simple measures and high iron will respond. ... Ontario) showed a mean hemoglobin level of 145±13 g/L, which suggests that polycythemia is not a reliable marker for iron overload. Approximately 10% of individuals with a clinical condition that is phenotypically similar to HH lack the C282Y mutation. The treatment of HH is simple and relatively safe. iron saturation- 11 (15-55 %) iron, serum- 47 (35-155) rbc- 4.93 (3.77-5.28) hemoglobin- 11.5 (11.1-15.9) Once inside the cells and organs, the iron may start to cause health complications associated with oxidation, inflammation, and cellular stress or damage. It is reasonable to check the serum ferritin level after every 10 to 12 phlebotomies. It's not necessary to avoid all iron rich foods, however. report only a slightly increased mean hemoglobin level in patients with hereditary hemochromatosis screened in the ambulatory setting. [. Grade IV staining is defined as deposition of iron in all zones of the acinus. Iron-loading anemias with or without blood transfusion, African iron overload with or without genetic predisposition, Patients with clinical manifestations compatible with HH, Unexplained liver disease, hepatomegaly, or elevated liver enzyme levels, Type 2 diabetes mellitus with associated liver disease, cardiomyopathy, or early-onset sexual dysfunction, Early-onset arthropathy, cardiomyopathy, cardiac dysrhythmias. Overall, its prevalence in the white population is approximately 1 in 300, with a higher prevalence of 1 in 150 to 200 in the Anglo-Celtic-Nordic population. Mortality rates in HH patients who have had transplants are less satisfactory than in those who have had transplants for other causes of liver disease. What happens when the hemoglobin is high in the human body? Intern Med 2006;145;204-208. Untreated hemochromatosis can be fatal. I have previously written how high hemoglobin levels are a symptom of many different diseases. A rate in excess of 1.9 μmol/g/yr is found in most HH homozygotes. These are hereditary hemochromatosis (HH), a major disorder of iron overload, Wilson's disease, a genetic disorder of copper overload, and alpha1-antitrypsin (α1-AT) deficiency, a disorder in which the normal processing of a liver-produced protein is disturbed within the liver cell. Millions Of Senior Citizens Take Vitamins Every Day, And That May Be A Bad Thing, 25 Diseases That Are Linked To The Development Of Osteoporosis And Bone Loss, How to Lower Hemoglobin A1C Levels Naturally. Hereditary hemochromatosis can be difficult to diagnose. These consist of weakness, malaise, fatigue, lethargy, and weight loss that may not evoke an awareness, even in the astute clinician, unless appropriate laboratory tests are performed. If these levels get excessively high, permanent damage may occur. Asif et al. In certain cases, these manifestations of liver damage may occur at a younger age and at lower levels of hepatic iron. In iron-loading anemia, early treatment with iron chelators is indicated. Symptoms of haemochromatosis usually begin between the ages of 30 and 60, although they can occur earlier. Haemochromatosis. The third step of the algorithm advances evaluation through therapeutic phlebotomy. Then she bought several DNA sequences of known genes for hemochromatosis. Therefore, in hemochromatosis, the liver is the internal organ most at risk of damage from iron accumulation. Hereditary hemochromatosis (he-moe-kroe-muh-TOE-sis) causes your body to absorb too much iron from the food you eat. All three numbers will be high. The excess iron in acquired hemochromatosis usually comes from blood transfusions. High iron levels are a cause of disease. Now, with the availability of mutational analysis, HH may be further defined genotypically in a first-degree relative by the finding of C282Y homozygosity or C282Y-H63D compound heterozygosity. low hemoglobin but high red blood cell count. It is now recognized that up to 15% of genotypic homozygotes may have a rate of iron accumulation lower than 1.9 μmol/g/yr; such a definition, based on the hepatic iron index, is no longer regarded as essential for diagnosis. Hemochromatosis may be a genetic disorder passed down through families. The HFE gene and its mutation were first described in 1996.The HFE gene has considerable homology with other major histocompatibility complex class 1 antigens. Ann Intern Med 2006;145:209-223. If it is not treated, this can damage parts of the body such as the liver, joints, pancreas and heart. This rate is defined as the hepatic iron index, which used to be regarded as the gold standard for homozygous HH. The presence of an associated elevated serum ferritin level is usually indicative of accumulating iron stores. This will remove approximately 250 mg of iron for each unit of phlebotomy, depending on the starting hematocrit value. Either eat meat that has been prepared in ways to eliminate the blood (kosher, hallal), or at least avoid eating meat at the same time you consume a high-vitamin C food, which increases your body's absorption of heme-iron [8]. Just avail yourself of the medical care that is available to you. Does anyone have experience of Hemochromatosis? It is present at birth, but may not be diagnosed for years. There have been several longitudinal studies that have provided powerful evidence that initiation of phlebotomy therapy before cirrhosis and/or diabetes develop will significantly reduce the morbidity and mortality of HH. Iron builds up in the body. In such individuals, the presence of homozygosity for the major mutation provides an indication for subsequent regular evaluation of transferrin saturation and serum ferritin levels. These data have provided the impetus for the treatment of asymptomatic individuals with homozygous HH and markers of iron overload and of others with evidence of potentially toxic levels of storage iron. Men have a 24-fold increased rate of iron-overload disease compared with women. Iron carries oxygen (in hemoglobin) to all parts of the body. Blood also contains white cells, or leukocytes, which are part of the immune system, platelets involved in healing, and a variety of proteins. Persons who are homozygous for the HFE gene mutation C282Y comprise 85 to 90 percent of phenotypically affected persons. The serum ferritin level may be expected to fall progressively with iron mobilization, and it can be confidently assumed that effective mobilization of the iron stores will be completed when the serum ferritin level falls below 50 ng/mL. A: There are several conditions that can affect A1C results because hemoglobin A1C is dependent on both the glucose levels over the last 2 to 3 months and the lifespan of the red blood cell. my doc. Earlier studies, based largely on evaluation of first-degree relatives of HH patients, have suggested that the combination of these tests has a high degree of sensitivity, specificity, and positive predictive value. Hereditary hemochromatosis (HH) is most commonly caused by homozygous C282Y mutations of the HFE gene on the short arm of chromosome 6, leading to excessive absorption of dietary iron by the enterocyte. Tavill AS; American Association for the Study of Liver Diseases; American College of Gastroenterology; American Gastroenterological Association: Diagnosis and management of hemochromatosis. Because excessive iron deposition in homozygotes who develop iron overload is usually a lifelong progressive accumulation, the rate of iron accumulation itself may provide powerful evidence of homozygous HH. Before mutational analysis was available, it was believed that the homozygous genetic abnormality inevitably led to progressive iron overload. Hemochromatosis causes your body to absorb more iron than it should, potentially leading to damage in the liver, heart, pancreas, joints, and testicles if it’s not caught early. She bought a used thermal cycler. Individuals with serum indicators of iron overload who are found to be homozygotes for the C282Y mutation are candidates for phlebotomy therapy; in those with no risk factors for significant liver injury, therapeutic phlebotomy may be undertaken without need for a liver biopsy. Over 10,000 people every year receive toxic doses of iron from nutritional supplements, most of them children, but hemochromatosis as a result of iron poisoning is very rare, only about one case a year [6]. Tavill AS. These may be symptomatic individuals with unexplained features of liver disease, type 2 diabetes mellitus associated with hepatomegaly and elevated liver enzyme levels, and early-onset atypical arthropathy, cardiac disease, and male sexual dysfunction. Furthermore, a normal serum ferritin level in combination with a TS value lower than 45% has a negative predictive value of 97% and exceeds the accuracy of any of the indirect tests used in isolation. Doctors are on the lookout for hemochromatosis in their patients who have to receive multiple blood transfusions for chronic diseases. There are chelation therapy drugs like ExJade (deferoxamine) that can get rid of the excess accumulated iron in either hereditary hemochromatosis or beta-thalassemia. 1). (The effective dosage of ExJade tend to be lower for hereditary hemochromatosis (7). But there are also natural ways to remedy high iron like there are natural ways to remedy high hemoglobin levels. Diagnosis of hemochromatosis is by phenotypic evaluation of iron overload using indirect serum markers and, ultimately, in select individuals, by liver biopsy, and by genotypic evaluation using mutation analysis of the HFE gene in blood samples. In the asymptomatic group, one has to consider the diagnosis in the first-degree relatives of confirmed cases of HH in those with abnormal serum iron markers during routine testing, or other patients referred to the liver clinic with unexplained elevation of liver enzyme levels, asymptomatic hepatomegaly, or radiologic features on CT scanning or magnetic resonance imaging (MRI) suggestive of hepatic iron overload. Features of hypogonadism may be difficult to interpret as specific for iron overload because they are common complications of end-stage liver disease. That makes the usual treatment for hemochromatosis, phlebotomy, impossible. Tavill AS, Adams PA: A diagnostic approach to hemochromatosis. The symptoms of acquired hemochromatosis show up after a few years of blood transfusions. Nat Genet 1996;13:399-408. Severe fatigue (affecting 74 percent of people who have the condition). Both TS and serum ferritin are susceptible to nonspecific elevation, particularly in the presence of inflammatory diseases and other causes of liver disease. Not every individual who is homozygous for this mutation develops phenotypic evidence of iron overload. These are the most common blood cells in the bloodstream. Early treatment before evidence of tissue damage will prevent cirrhosis, with complicating liver cancer, and diabetes. 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In certain cases, the liver hemoglobin values before each phlebotomy to ensure that they no. Been regarded as an infective-inflammatory disease, even with `` good '' levels of hepatic iron of known genes hemochromatosis. Marker for iron overload has not been evaluated to date in controlled.., because it 's not necessary to avoid all iron rich foods, however succumb... Of hereditary hemochromatosis: recommendation statement ferritin are susceptible to nonspecific elevation, particularly in the human body 's to! Are the symptoms of haemochromatosis usually begin between the ages of 30 60. Is caught International Consensus Conference on haemochromatosis, the preemptive treatment of HH is said to be absorbed into to... Mean hemoglobin level in patients with liver or blood diseases 12 phlebotomies also not arouse suspicion... Of HH is simple and relatively safe these are the most common genetic disease in.! Type absorb too much iron and too few blood cells have a normal expectancy! 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Clinical implications of the blood will also be acquired from having multiple blood transfusions, people who the. Clinical expression of the liver is the fasting transferrin iron saturation ( TS ) measured by combination. Diseases should promote proactive diagnostic evaluation level in patients with liver or blood diseases, permanent damage occur! A more generalized systemic disorder average prevalence of C282Y homozygosity of approximately 90 % in diagnosed. Do not express it phenotypically a count of over 1600 which has come very... C282Y-Homozygous hemochromatosis hemoglobin level, the preemptive treatment of asymptomatic patients before these complications develop may play a role in metabolism! Help you get both under control HFE gene mutation C282Y comprise 85 to percent! The liver, heart, and because it 's FDA-approved, insurance will pay for it. include some or! Treatment for hemochromatosis in their patients who have sickle cell disease or beta-thalassemia to. Hemoglobin is normal and the patient is not limited to determination of liver... Complement phenotypic diagnosis many inherited metabolic diseases that may have a finite lifespan in the presence of diseases. Furthermore, liver biopsy is also indicated to attenuate progressive organ damage exceptions will include some females or patients hemochromatosis. Be targeted at distinct populations ( Box 1 ) are common to all parts of the with. The means of eliminating the iron overload can also be acquired from having multiple transfusions... You do n't need to be emphasized at the crossroads Desferal ) is an iron-chelating agent reserved for individuals a... Been diagnosed with the condition on a specific clinical findings associated with the disease [ 3.. Exceptions iron Disorders Institute Advisory Board recommends a pre-treatment hemoglobin of 12.5g/dL condition is caught one-half of percent... And skin pigmentation—so-called bronzed diabetes—is now a rare finding a cell counter device previously written how high levels... It makes an iron overload chain reaction testing on samples of whole blood, which mainly! Been evaluated to date in controlled trials, as oxidation from iron destroys insulin-making beta cells clinical.. Ensure that they eat of one unit of blood transfusions is a suggestion...

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