Hereditary hemochromatosis is caused mainly by specific inherited alterations mutations in the hfe gene. Today, hemochromatosis is defined as a metabolic disorder affecting iron absorption, and resulting in the accumulation of excess iron in the bodys organs. Prevalence of hfe c282y and h63d genotypes according to race or ethnic group. To make iron overload even more confusing, some forms are clearly not inherited but are as a result of other diseases, and therefore called secondary hemochromatosis. Policy guidelines the evidence for genetic testing for hereditary hemochromatosis hfe gene in individuals who. Get a printable copy pdf file of the complete article 939k, or click on a page image below to browse page by page. Hemochromatosis genetic and rare diseases information.
Iron overload can occur from multiple blood transfusions, a requirement for such disorders as chronic leukemia and thalassemias. Consequences can include systemic symptoms, liver disorders, cardiomyopathy, diabetes, erectile dysfunction, and arthropathy. Hereditary hemochromatosis hh is defined as an inherited iron overload disorder characterized by excessive absorption of iron, due to. Other forms of hemochromatosis canadian hemochromatosis society. Over time, the extra iron builds to toxic levels in vital organs such. Secondary hemochromatosis usually is the result of another disease or condition that causes iron overload. Thus, the concept of secondary hemochromatosis is a broad one, encompassing all cases of iron overload that are not due to a primary, hereditary disorder of iron metabolism box 1 gif ppt. Secondary iron overload merck manuals professional edition. This mutation is inherited in an autosomal recessive pattern. Usually, this is done by removing blood from your body called phlebotomy, inserting a needle into a vein to remove extra red blood cells from the blood on a regular basis. The most important causes are hereditary haemochromatosis hhc, a genetic disorder, and transfusional iron overload, which can result from repeated blood transfusions.
This is the most comprehensive clinical reference yet on hemochromatosis. If you have hemochromatosis, you absorb more iron than you need. Genetic testing is one way to diagnose classic hemochromatosis. Hereditary hemochromatosis is the most common autosomal recessive disorder in caucasians with a prevalence of 1 in. The two forms of hemochromatosis are primary and secondary. Hereditary ironloading anemia with secondary hemochromatosis. A read is counted each time someone views a publication summary such as the title, abstract, and list of authors, clicks on a figure, or views or downloads the fulltext. Secondary iron overload msd manual consumer version.
Uncomplicated primary, or idiopathic, hemochromatosis only rarely is associated with significant anemia 1. In the united states, the most common form of hemochromatosis in adults is hereditary hemochromatosis. Rather, the treatment is based on the targeted elimination of iron by means of iron chelators. Hereditary hemochromatosis hh is an inher ited autosomal recessive iron overload disorder resulting in the failure of the normal hepcidin response to body. Secondary iron overload results from excess absorption of iron, repeated blood transfusions, or excess oral intake, typically in patients with disorders of erythropoiesis. But people sometimes get it from having a lot of blood transfusions, certain blood problems, liver disease, or alcohol use disorder. Most people who have primary hemochromatosis inherit it from their parents. Iron is important because it is part of hemoglobin, a molecule in the blood that transports oxygen from the lungs to all body tissues.
National digestive diseases information clearinghouse. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. The current strategy to treat hemochromatosis is phlebotomy, which can have unwanted sideeffects and which is not an option in cases of secondary hemochromatosis, such as thalassemia, since. People with these types of hemochromatosis have one changed copy of the slc40a1 gene or fth1 genes. Links to pubmed are also available for selected references. It appears instead to result from an increased intestinal absorptive capacity for dietary iron, this malfunction possibly being inherited and occurring in the absence of anemia or other hematologic abnormalities.
Hereditary hemochromatosis is distinct from secondary iron overload, which also causes increased iron absorption and increased iron deposition. When genetic testing for hemochromatosis is not covered genetic testing for hereditary hemochromatosis in screening of the general population is considered investigational. Rare forms of hereditary hemochromatosis include type 2 a and b, juvenile hemochromatosis caused by hjv and hamp mutation, type 3 related to tfr2 mutation, and type 4 a and b, ferroportin. Primary hemochromatosis is an inherited genetic disorder that causes you to absorb too much iron from food. Classic hereditary hemochromatosis is caused by changes mutations of the hfe gene. Diabetes mellitus and hepatic cirrhosis due to pancreas and liver damage are just two examples of diseases that. Secondary iron overload occurs when iron accumulates in the body because people take too many iron supplements, receive a large number of blood transfusions, or have a disorder in which they cannot form red blood cells efficiently. Once considered a rare condition, hemochromatosis is now acknowledged as one of the commonest inherited disorders, affecting one in two hundred people of western caucasian descent and in the u. Four hypogonadal men were reevaluated after iron depletion treatment. Secondary hemochromatosis due to chronic oral iron. Iron overload indicates accumulation of iron in the body from any cause. In most cases, people with these types of hemochromatosis inherit the genetic change from a parent who also has the disease. The genetic condition of haemochromatosis is also detected by a. Dietary guidelines for hemochromatosis what is hemochromatosis.
Summary hemochromatosis is the most common genetic disease in northern. Hemochromatosis is the most common form of iron overload disease. Hereditary hemochromatosis merck manuals professional edition. Secondary iron overload hematology and oncology msd. Hemochromatosis may be primary which is a genetic disorder or secondary which can result from a variety of diseases. Secondary hemochromatosis as a result of acute transfusion. Primary hemochromatosis, also called hereditary hemochromatosis, is an inherited disease. Primary hemochromatosis is an autosomal recessive condition due to an abnormal hfe gene, the protein product of which regulates iron absorption from the gastrointestinal tract. Secondary hemochromatosis blood american society of. Ppt hereditary hemochromatosis powerpoint presentation.
Appropriate use of genetic testing for classic hhc is to confirm of diagnosis in adults or for couples. Hemochromatosis fact sheet iron disorders institute home. Hereditary hemochromatosis is a genetic disorder characterized by excessive iron fe accumulation that results in tissue damage. Jul 24, 2009 because secondary hemochromatosis is due to hereditary or acquired anemia, phlebotomy is not a suitable means of removing excess iron in this situation. Because secondary hemochromatosis is due to hereditary or acquired anemia, phlebotomy is not a suitable means of removing excess iron in this situation. Hemochromatosis national digestive diseases information clearinghouse what is hemochromatosis. Furthermore, since large case series and natural history studies are primarily based on cohorts of patients with type 1 or hfehh, the discussion of diagnosis, prognosis and treatment will be largely limited to this type of hh. Introduction hemochromatosis was first identified in the 1800s, and by 1935 it was understood to be an inherited disease resulting in iron overload and deposition. Full text is available as a scanned copy of the original print version. The subsequent iron overload that can occur from this treatment can lead to secondary hemochromatosis with multiorgan damage.
When an individual inherits two altered copies of the. Stage 1 refers to those patients with the genetic dis. Idiopathic hemochromatosis was first described by hartman and chausser, in 1882. Manifestations can include systemic symptoms, liver disorders, cardiomyopathy, diabetes, erectile dysfunction, and arthropathy. The most common type of hemochromatosis runs in families. No hepatomegaly no no yes phlebotomy liver biopsy positive for hhc no yes phlebotomy follow 29 references. Feb 15, 2018 hemochromatosis types 4 and 5 are inherited in an autosomal dominant manner.
Resources for patients regarding hemochromatosis donor programs are available from the iron disorders institute at patient teaching. How i treat hemochromatosis blood american society of. This is called hereditary or primary hemochromatosis. Secondary hemochromatosis is caused by anemia, alcoholism, and other disorders. Jul 22, 2010 hemochromatosis is a common heritable disorder characterized by the progressive accumulation of iron attributable to increased absorption from dietary sources. People with hemochromatosis absorb more iron from their diet than people with normal iron absorption and may develop iron overload that may affect different organs if left untreated. None of 23 women with hemochromatosis had loss of libido or had a natural menopause before age 45. Howard and stevens, in 1917, were among the first to demonstrate that abnormal iron metabolism was the. Iron disorders institute does not recommend using the genetic test. Mar 20, 2020 hemochromatosis is a disease in which too much iron builds up in your body.
Hemochromatosis gastrointestinal medbullets step 1. It stores it in body tissues, especially the liver, heart, and pancreas. Iron disorders institute does not recommend using the genetic test for screening purposes or on persons younger than age 19. Because secondary hemochromatosis is due to hereditary or acquired anemia, phlebotomy is not a suitable means of removing excess iron in. Pdf version of the booklet here haemochromatosis australia. Review diagnosis and treatment of hereditary hemochromatosis. Youve been diagnosed with hemochromatosis, a disease that causes your body to absorb too much iron. Update on hereditary hemochromatosis and the hfe genebrandhagen d, fairbanks v, batts k, thibodeau smayo clin proc. Excess iron deposition in parenchymal tissue causes injury and ultimately organ dysfunction. Diagnosis and treatment of hereditary hemochromatosis. Its a condition that causes dangerously high levels of iron build up in the body. Hemochromatosis is a disorder in which extra iron builds up in the body to harmful levels. Without treatment, hemochromatosis can cause iron overload, a buildup of iron that can damage many parts of the body, including your liver, heart, pancreas, endocrine glands, and joints.
Hemochromatosis awarenessdiseasesresourcesgenomicscdc. Share this information with patients and their families 12,16,20. Your body has no natural way to get rid of the extra iron. This is called acquired or secondary hemochromatosis. The treatment of secondary hemochromatosis request pdf. While well recognized in patients receiving chronic transfusions, we present a case outlining the acute development of hemochromatosis secondary to multiple transfusions in a burn patient. Hemochromatosis is an inherited disorder that causes the body to absorb extra iron. Natural history of untreated hereditary haemochromatosis. Hemochromatosis definition of hemochromatosis by the free. If you inherit two hemochromatosis genesone from each parentyoure at risk for iron overload and signs and symptoms of the disease.