Ferroportin's disease - symptoms, causes, treatment | NERD (2023)

Inspection of the disease

Ferroportin's disease, also known as hemochromatosis type 4, is a rare genetic disorder characterized by abnormal accumulation of iron in the body.Ferroportin's disease is caused by mutationsSLS 40 C 1Gen.The specific symptoms associated with Ferroportin's disease can vary greatly from person to person.Some individuals may have only elevated levels of ferritin, an iron -binding protein used as an indicator of the body's iron stocks in the blood plasma.Other individuals may develop symptoms similar to classic hereditary hemochromatosis.

Ferroportin disease is classified as an iron overload disorder, a group of disorders characterized by abnormal accumulation of iron in the body. It is a separate, distinct disorder from classic hereditary hemochromatosis. Ferroportin disease is caused by mutations in a different gene and is inherited in a different way than other forms of hemochromatosis.

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  • Hemochromatosis TIPA 4
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signs and symptoms

The symptoms of ferroportin's disease vary widely from person to person.Researchers believe there are different mutationsSLS 40 C 1The gene is associated with various symptoms. In general, ferroportin disease is divided into two main forms.

Some people with Ferroportin's disease develop a mild form of suffering.These individuals have elevated levels of ferritin in the blood plasma (hyperferritinemia) and low levels of saturated transferrin (a protein that carries iron in the blood).As the affected persons age, mild liver damage (liver fibrosis) becomes.

Other individuals develop a form of ferroportin disease that resembles the more common classic form of hemochromatosis (hemochromatosis type 1). Transfer saturation is significantly elevated in this form. Symptoms associated with this form include joint pain, abnormalities in the rhythm of the heart or heart rhythm. (arrhythmias) and diabetes Liver damage is widespread in this form of ferroportin disease and can progress to scarring (cirrhosis) of the liver.

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Ferroportin disease is caused by mutationsSLC40A1gen.ASLS 40 C 1The gene contains instructions for making ferroportin, a specialized protein essential for the proper export of iron from cells. Ferroportin also plays a role in the proper breakdown (metabolism) of iron. Iron is a critical mineral found in all cells of the body and is essential for the body to function properly and increase. Iron is found in many types of food, including red meat, poultry, eggs and vegetables. Iron levels must remain within a certain range in the body, otherwise it can cause anemia (due to low iron levels) or damage to the affected organs (due to high iron levels).

MutationSLC40A1The gene results in low levels of functional ferroportin.The lack of functional ferroportin eventually results in abnormal accumulation of iron in the body's cells and tissues.Different mutationsSls 40 C 1The gene affects the ferroportin protein in different ways and changes the export and metabolism of iron accordingly. The researchers believe that the different ways in whichSLS 40 C 1Mutations affect the report of ferroportin for two different types of disorder.

Ferroportin's disease is inherited as an autosomal dominant genetic condition Dominant genetic disorders occur when only one copy of the abnormal gene is required for the disease to occur.The abnormal gene can be inherited either from the parents, or it may be the result of a new mutation (re -amendment) in the affected individual The risk of transferring the abnormal gene from the affected parent to the offspring is 50 percent for each pregnancy risk is the same for menand women.

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Affected population

Ferroportin's disease affects men and women equally. The exact incidence of ferroportin disease is unknown. Researchers believe that the disorder occurs more frequently than reported in the medical literature. Ferroportin affects individuals of all races and ethnicities. Some researchers believe that ferroportin disease is the most common form of inherited iron overload after classic (type 1) hemochromatosis.

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Disorders with similar symptoms

Symptoms of the following disorders may resemble those of ferroportin disease. Comparisons can be useful for differential diagnosis.

Primary iron overload disorders are a group of rare disorders characterized by an accumulation of iron in the body. This group includes hemochromatosis, atransferrinemia, aceruloplasminemia, neonatal hemochromatosis, and African iron overload. Hemochromatosis is divided into four different disorders - hereditary (classic) hemochromatosis, also known as HFE-associated hemochromatosis; hemochromatosis type 2 (juvenile hemochromatosis); hemochromatosis type 3, also known as TFR2-related hemochromatosis; and hemochromatosis type 4, also known as ferroportin disease. The specific symptoms associated with these disorders can vary depending on the location and extent of iron accumulation. Common symptoms include fatigue, abdominal pain, lack of sex drive, joint pain and heart abnormalities. If left untreated, iron can accumulate in various organs of the body and cause serious, life-threatening complications. (For more information about these disorders, select the specific disorder name as a keyword in the Rare Disease Database.)

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The diagnosis of ferroportin disease is made based on the identification of characteristic symptoms, detailed history of patients, thorough clinical assessments and various specialized tests. Conditional history of affected individuals in successive generations is highly suggestive (autosomal dominant inheritance). Blood tests can detect certain results associated with ferroportin disease., including high levels of ferritin in the blood and in milder disease, low or normal transfers saturation, another protein that plays a role in the proper transport of iron in the body. Molecular genetic testing of mutationsSLS 40 C 1The gene is available and required to confirm the diagnosis.

(Video) Mayo Clinic: William Palmer, M.D. - Hereditary Hemochromatosis

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Standard treatments

The treatment of Ferroportin's disease is aimed at the specific symptoms visible in the individual.Specific treatment may depend on the severity and shape of Ferroportin's disease.

People with a form of ferroportic disease reminiscent of classic hemochromatosis can be treated with ordinary flebotomy, a procedure in which blood is removed from a vein. Persons with a mild form of ferroportic disease do not necessarily need treatment, and flebotomy in these persons is often complicated byAnemia.

Genetical consultation is recommended for sick persons and their families. Special treatment is symptomatic and supportive.

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Clinical trials and examinations

Additional therapies have been used to treat people with iron overload disorder. Such therapies include iron chelators and antioxidants. Iron chelators are drugs that bind to excess iron in the body so that it dissolves in water and is excreted from the body through the kidneys. Antioxidants such as vitamin E are substances thought to protect cells from damage caused by unstable molecules called free radicals.

Information about current clinical trials is published on the Internet atwww.clinicaltrials.gov.All investigations that received support from the US government, some supported by the private industry, are published on this government's website.

For information about clinical trials conducted at the NIH clinical center in Bethesda, andre.Honning.

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Some current clinical trials are also published on the following page on NORD's website:https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/

For information on privately sponsored clinical trials, please contact:

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Articles in magazines
Wallace DF, Subramaniam VN.Non-HFE hemokromatoza.World J Gastroenterol.2007; 13: 4690-4698.

Griffiths WJ. Review article: genetic basis of hemochromatosis. Aliment Pharmacol Ther. 2007;26:331-342.

Cremonesi L, Forni GL, Soriani N et al. Genetic and clinical heterogeneity of ferroportin disease Br J Haematol 2005; 131: 663-670.

Nemeth E. Ferroportin Mutations: A tale of two phenotypes KRV 2005;105: 3763-3764.

Pietrangelo A. Beroportin's disease Blood cells MOl DIS.2004;32: 131-138.

CAZZOLA M. Genetic disorders of iron overload and the new “ferroportin disease” Hematologica 2003; 88: 721-724.

(Video) Haemochromatosis (Iron Overload) - iron physiology, causes and pathophysiology

Ponka P. Rare cases of hereditary iron overload. Semin hematol. 2002;39:249-262.

McKusick Va., Ed.online Mendelian Inheritance in Man (Omim).Baltimore.md: Johns Hopkins University;Accession no.: 606069;Last Updated: 21/06/2016.Available at:http://omim.org/entry/606069Opened on October 21, 2019

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Patient organizations

American Hemochromatosis Society

Telephone: 407-829-4488 E-mail: [e-mail protected] Fax:407-333-1284

Related Rare Diseases: Ferroportine disease,,Juvenile hæmokromatose,,Neonatal hæmokromatose,...


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Canadian Hemochromatosis Society

Telephone: 604-279-7135 E-mail: [E -mailpoteret] Fax:604-279-7138

Associated rare diseases: Ferroportin disease,,Hæmokromatose juvenile,Classic hereditary hemochromatosis...


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(Video) Hemochromatosis- Iron Overload Disorder!

Iron Disorders Institute

Telephone: 864-292-1175 E -mail: [E -mailpoteret] Fax:864-292-1878

Affiliated rare diseases: African iron overloaded,,Atransferinemija,,Ferroportine disease,,...


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Associated rare diseases: Liddles syndrom,Hepatitis D,Pediatric Crohn's disease,...


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(Video) Hemochromatosis: causes,pathophysiology,signs and symptoms,diagnosis and treatment


What are the symptoms of ferroportin disease? ›

The specific symptoms related to these disorders can vary depending upon the location and extent of iron accumulation. Common symptoms include fatigue, abdominal pain, lack of sex drive, joint pain, and heart abnormalities.

What is the ferroportin disease? ›

Abstract. Ferroportin Disease (FD) is an autosomal dominant hereditary iron loading disorder associated with heterozygote mutations of the ferroportin-1 (FPN) gene. It represents one of the commonest causes of genetic hyperferritinemia, regardless of ethnicity.

What is the function of ferroportin? ›

Ferroportin (Fpn) emerges as a critical transporter in terms of iron acquisition and transfer of iron between cell types, as it is the only known transporter that exports elemental iron from cells. Fpn is essential to distribute iron between tissues and for iron absorption into the organism.

What are the symptoms of too much iron in the blood? ›

These signs may include:
  • Fatigue (feeling tired a lot).
  • General weakness.
  • Heart flutters or irregular heartbeat.
  • “Iron fist,” or pain in the knuckles of the pointer and middle fingers.
  • Joint pain.
  • Stomach pain.
  • Unexplained weight loss.
Jan 1, 2021

What are 3 signs and or symptoms of hemochromatosis? ›

Symptoms & Causes of Hemochromatosis
  • feeling tired or weak.
  • pain in the joints, particularly in the knees and hands.
  • loss of interest in sex or erectile dysfunction.
  • pain in the abdomen over the liver.
  • darkening of skin color, which may appear gray, metallic, or bronze.

Where is ferroportin located? ›

Ferroportin is found on the basolateral membranes of intestinal epithelia of mammals, including: Enterocytes in the duodenum. Hepatocytes. Macrophages of the reticuloendothelial system.

How do you get rid of excess iron in your body naturally? ›

The body has no easy way to dispose of extra iron. The most effective way to get rid of excess iron is blood loss. Therefore, menstruating women are less likely to experience iron overload. Likewise, those who donate blood frequently are at lower risk.

What is ferroportin inhibited by? ›

Hepcidin inhibits ferroportin (SLC40A1), the only known cellular iron exporter (7, 8).

What is the disease with high iron? ›

Hemochromatosis (he-moe-kroe-muh-TOE-sis) causes your body to absorb too much iron from the food you eat. Excess iron is stored in your organs, especially your liver, heart and pancreas. Too much iron can lead to life-threatening conditions, such as liver disease, heart problems and diabetes.

What degrades ferroportin? ›

Hepcidin binding to ferroportin induces its internalization and degradation, resulting in cellular iron retention and decreased iron export.

What is the gene for ferroportin? ›

The SLC40A1 gene provides instructions for making a protein called ferroportin. This protein is involved in the process of absorbing iron that the body receives from food. Ferroportin transports iron obtained from the diet that is absorbed through the walls of the small intestine into the bloodstream.

What binds to ferroportin? ›

Hepcidin binds to the iron exporter ferroportin, inducing its degradation and thus preventing iron entry into plasma.

How do you fix too much iron in your blood? ›

The most commonly used treatment for haemochromatosis is a procedure to remove some of your blood, known as a venesection or phlebotomy. The procedure is similar to giving blood. You lie back in a chair and a needle is used to drain a small amount of blood, usually about 500ml, from a vein in your arm.

Can too much iron make you feel bad? ›

Excessive iron can be damaging to the gastrointestinal system. Symptoms of iron toxicity include nausea, vomiting, diarrhea and stomach pain. Over time, iron can accumulate in the organs, and cause fatal damage to the liver or brain.

What symptoms would you see if you had hemochromatosis disease? ›

How do you know if you have hemochromatosis?
  • Feeling of tiredness or weakness,
  • Weight loss,
  • Joint pain,
  • Bronze or grey skin color,
  • Abdominal pain, and.
  • Loss of sex drive.

What is the first organ affected in hemochromatosis? ›

The liver is the organ most affected by hemochromatosis, because of its relatively large blood flow. Blood from the portal circulation (which comes from the intestines) goes straight to the liver. Once the body absorbs iron, it is not lost until blood is lost.

Can hemochromatosis affect sleep? ›

Many patients also have periodic limb movements in sleep (PLMS), and they may complain of insomnia and/or hypersomnia. Hereditary haemochromatosis is an autosomal recessive disease of iron metabolism in which increased intestinal absorption of iron leads to iron deposition in multiple organs.

What are the 4 types of hemochromatosis? ›

Type 1 hemochromatosis results from mutations in the HFE gene, and type 2 hemochromatosis results from mutations in either the HJV or HAMP gene. Mutations in the TFR2 gene cause type 3 hemochromatosis, and mutations in the SLC40A1 gene cause type 4 hemochromatosis.

Where is hemochromatosis most commonly found? ›

The classic form of hemochromatosis is most common in Caucasians of Northern European descent. It is a genetic disease that may be found in families.

What is the difference between ferroportin and transferrin? ›

Ferroportin transports only Fe2+ (27), whereas transferrin in portal blood will bind only Fe3+. Efficient transfer of iron to portal blood transferrin is thought to involve an oxidation step catalyzed by a ferroxidase.

What pulls iron out of the body? ›

All grains, legumes, seeds, and nuts contain phytic acid, or phytate, which reduces iron absorption. Eating foods high in phytates, such as beans, nuts, and whole grains, reduces the absorption of nonheme iron from plant foods. As a result, it may reduce total iron levels in the body.

What type of doctor treats high ferritin? ›

Hematologists (blood disease specialists)

What destroys iron in blood? ›

Certain infections, which may be viral or bacterial. Medicines, such as penicillin, antimalarial medicines, sulfa medicines, or acetaminophen. Blood cancers. Autoimmune disorders, such as lupus, rheumatoid arthritis, or ulcerative colitis.

What foods inhibit iron uptake? ›

The following foods can interfere with iron absorption:
  • tea and coffee.
  • milk and some dairy products.
  • foods that contain tannins, such as grapes, corn, and sorghum.
  • foods that contain phytates or phytic acid, such as brown rice and whole-grain wheat products.

Which cells have ferroportin? ›

Consistently, ferroportin (FPN), the only known vertebrate iron exporter identified to date, is highly expressed in splenic macrophages, Kupffer cells, hepatocytes, and intestinal epithelial cells, from which it transports iron into the blood.

How does ferroportin contribute to maintaining iron levels? ›

Ferroportin exports iron from duodenal enterocytes that absorb dietary iron, from iron-recycling macrophages in the spleen and the liver, and from iron-storing hepatocytes. Hepcidin blocks iron export through ferroportin, causing hypoferremia.

What is the root cause of high iron? ›

Iron overload occurs when there are excess stores of iron in the body. Primary iron overload is often inherited. Secondary iron overload usually arises from causes such as transfusion, hemolysis, or excessive parenteral and/or dietary consumption of iron.

What cancers cause high iron levels? ›

Leukemia cells show increased iron uptake and decreased iron efflux, leading to elevated cellular iron levels.

What cancers cause elevated ferritin levels? ›

Ferritin is often elevated in the serum of cancer patients including those with neuroblastoma (63), Hodgkinson's lymphoma (64), cervical (65), oral squamous cell (66), renal cell (67), T cell lymphoma (68), CRC (69), and breast (70) cancers and were often associated with increased tumor grade and shorter survival.

What inhibits iron absorption the most? ›

The most important inhibitors of iron uptake are phytic acid/phytates, polyphenols/tannins, proteins from soya beans, milk, eggs, and calcium.

What are two factors that inhibits iron absorption? ›

While phytic acid, sodium oxalate, and sodium silicate decrease iron absorption, ascorbic acid has the ability to counteract their inhibitory effects. Inclusion of meat to the vegetable puree significantly increased the nonheme iron absorption.

What regulates iron uptake? ›

Iron absorption is regulated by the hepatic peptide hormone hepcidin. Hepcidin also controls iron release from cells that recycle or store iron, thus regulating plasma iron concentrations. Hepcidin exerts its effects through its receptor, the cellular iron exporter ferroportin.

What can cause high iron besides hemochromatosis? ›

This may include inflammatory disorders, liver disease (particularly non-alcoholic steatohepatitis (NASH)/fatty liver), alcohol excess, malignancy, renal failure, and metabolic syndrome, which are each more common than hemochromatosis.

What should I eat if I have hemochromatosis? ›

Avoid processed meat, offal and blood containing foods. Eat no more than 200 g meat from poultry per week. Choose fish, eggs, vegetables and protein rich legumes the other days. Eat fish two to four times a week as main course, 350 - 500 g fish per week, of which half should be fat fish.

What protein binds iron in blood? ›

Ferritin is a multisubunit protein capable of binding up to 4,000 iron atoms and serves principally as an iron-storage protein, though it may also serve to detoxify iron. In iron-rich tissues ferritin is largely degraded and the iron is converted to haemosiderin.

What gene prevents iron absorption? ›

The TMPRSS6 gene encodes a particular liver protein that regulates the production of hepcidin, an iron regulatory hormone. In children with IRIDA, the TMPRSS6 mutation causes elevated levels of hepcidin, which ultimately impairs the body's ability to both absorb and use iron.

What protein binds to iron in the stomach? ›

The Biology of Lactoferrin, an Iron-Binding Protein That Can Help Defend Against Viruses and Bacteria. Lactoferrin is a nutrient classically found in mammalian milk. It binds iron and is transferred via a variety of receptors into and between cells, serum, bile, and cerebrospinal fluid.

How do you feel with low iron? ›

Extreme fatigue. Weakness. Pale skin. Chest pain, fast heartbeat or shortness of breath.

How does a person with anemia feel? ›

If you have anemia, your body does not get enough oxygen-rich blood. The lack of oxygen can make you feel tired or weak. You may also have shortness of breath, dizziness, headaches, or an irregular heartbeat.

What are the worst symptoms of low iron? ›

Undiagnosed or untreated iron-deficiency anemia may cause serious complications such as fatigue, headaches, restless legs syndrome, heart problems, pregnancy complications, and developmental delays in children. Iron-deficiency anemia can also make other chronic conditions worse or cause their treatments to work poorly.

Can low iron cause joint and muscle pain? ›

Fatigue and neurocognitive symptoms often raise a suspicion of depression. Furthermore, headache and muscle and joint pain associated with iron deficiency are repeatedly considered migraine and fibromyalgia syndrome, respectively 3, 19.

Can turmeric lower iron levels? ›

Turmeric is among the spices known to inhibit iron absorption by 20%-90% in humans, reducing iron absorption in a dose-dependent manner [10]. The stoichiometric qualities of turmeric indicate it could bind nearly all absorbable iron and cause iron deficiency, and it does so in mice [3].

What alcoholic drinks are high in iron? ›

Iron Content

Stouts, porters, and other darker beers contain the highest concentrations of iron. Lagers, pale ales and other light-colored beers contain about three-quarters of the iron of darker beers, whereas non-alcoholic beers have about half the iron content of dark beers.

What are the symptoms of iron overload in humans? ›

With the buildup of harmful levels of iron, hemochromatosis can cause symptoms including feeling tired or weak, pain in the joints, loss of interest in sex or erectile dysfunction, pain in the abdomen over the liver, and darkening of skin color.

How do you know if your iron is too high? ›

Transferrin saturation values greater than 45% are considered too high. Serum ferritin. This test measures the amount of iron stored in your liver. If the results of your serum transferrin saturation test are higher than usual, your health care provider may check your serum ferritin.

Can too much iron make you dizzy? ›

After those early symptoms, other serious complications can develop within 48 hours after the iron overdose, such as: dizziness. low blood pressure and a fast or weak pulse.

What is the most common cause of death in hemochromatosis? ›

Prognosis. Among affected persons, the iron concentration in the liver is a major determinant of the risk of cirrhosis (scarring) of the liver and, in turn, of hepatocellular carcinoma (liver cancer). These are the two major causes of death associated with hereditary hemochromatosis.

At what age does hemochromatosis start? ›

Men with type 1 or type 4 hemochromatosis typically develop symptoms between the ages of 40 and 60, and women usually develop symptoms after menopause. Type 2 hemochromatosis is known as a juvenile-onset disorder because symptoms often begin in childhood.

What foods should you avoid if you have hemochromatosis? ›

People with hemochromatosis are also more susceptible to blood stream infections. Do not avoid fruits, vegetables, nuts, grains, rice, and beans – These foods do contain iron, but mostly in non-heme form, which is more difficult to absorb than heme iron.

Do you feel sick with hemochromatosis? ›

Hemochromatosis may cause belly pain, weakness, tiredness, and weight loss. It also can scar the liver, cause joint pain, and darken the skin. In late stages, it can damage the heart and joints, and can cause diabetes. Symptoms of hemochromatosis often do not appear until a person is 40 to 60 years old.

What does your skin look like with hemochromatosis? ›

Skin pigmentation is often one of the first signs of the disease and may precede the other features by many years. Hyperpigmentation is most evident on sun-exposed skin, particularly on the face. The colour of skin can be slate grey or brownish bronze. Partial loss of body hair; the pubic region is most affected.

What prevents iron uptake? ›

Inhibitors of iron absorption include phytate, which is a compound found in plant-based diets that demonstrate a dose-dependent effect on iron absorption. Polyphenols are found in black and herbal tea, coffee, wine, legumes, cereals, fruit, and vegetables and have been demonstrated to inhibit iron absorption.

What affects iron uptake? ›

Phytates and fibres found in wholegrains such as bran can reduce the absorption of iron and other minerals. Inadequate vitamin A in your diet could lead to iron deficiency because vitamin A helps to release stored iron. Calcium and phosphorus reduce the absorption of plant-sourced (non-haem) iron.


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