The aim of this study was to assess the impact of the HFE gene discovery on the clinical presentation and epidemiology of HH. [bmcmedgenet.biomedcentral.com]

Of the 16 homozygotes, 8 had clinical signs or symptoms associated with hemochromatosis, suggesting a penetrance of 50%. [7] In a meta-analysis of data from 7 studies, clinical manifestations were present in 50% of males and 44% of female patients who [emedicine.medscape.com]

Hepatosplenomegaly was present. Patient had gynecomastia and history of infertility. [ijhas.in]

Also, juvenile forms of hereditary haemochromatosis present in childhood with the same consequences of iron overload. End-organ damage [ edit ] Iron is stored in the liver, pancreas, and heart. [en.wikipedia.org]

Men are more likely to present with liver disease. Women are more likely to present with fatigue and arthritis. [yourgenome.org]

• Splenomegaly

  An abnormally enlarged spleen (splenomegaly) may also occur. Additional symptoms occur depending on the specific organs involved. [rarediseases.org]

  Symptomatic Findings in Patients with HH [ edit ] Liver- hepatomegaly, splenomegaly, liver failure Joints- arthritis, swelling, chondrocalcinosis Heart- dilated cardiomyopathy, CHF Skin- increased pigmentation Endocrine- testicular atrophy, hypogonadism [snpedia.com]

  In advanced cases of hemochromatosis there will likely be cardiac arrhythmias, congestive heart failure, testicular atrophy, jaundice, increased pigmentation, spider angiomas and splenomegaly. [themedicalbiochemistrypage.org]

  […] dysfunction [ more ] 0000802 Increased serum ferritin Elevated serum ferritin High ferritin level Increased ferritin Increased serum ferritin level [ more ] 0003281 Increased serum iron 0003452 Osteoporosis 0000939 Pleural effusion Fluid around lungs 0002202 Splenomegaly [rarediseases.info.nih.gov]

  […] varices Hepatocellular carcinoma Hepatomegaly Hypogonadism Hypothyroidism Impotence Increased pigmentation (bronze diabetes), rare late finding Joint swelling, especially second and third metacarpophalangeal joints Lethargy Loss of libido Osteoporosis Splenomegaly [aafp.org]

• Abdominal Pain

  Hypopituitarism can cause a wide variety of symptoms including fatigue, headaches and abdominal pain. [rarediseases.org]

  The symptoms associated with hemochromatosis are diverse and include joint pain, fatigue, abdominal pain, loss of libido (sex drive), and heart problems. However, it sometimes causes no symptoms. [diabetesselfmanagement.com]

  The most common presenting symptoms for hereditary hemochromatosis are weakness, abdominal pain, or joint pains. Many cases are asymptomatic. [askhematologist.com]

  Chronic unexplained fatigue, weakness, and abdominal pain. Asymptomatic patients with incidental elevated LFT, ferritin, or hepatomegaly. Early onset arthralgia, atypical arthropathy. [newcastle-hospitals.org.uk]

  References: [8] Clinical features Asymptomatic in 75% of cases The onset of symptoms: typically between the 3 rd and 5 th decade of life Abdominal pain, hepatomegaly → liver cirrhosis (+ hepatocellular carcinoma ) Fatigue, lethargy Hyperpigmented, bronze [amboss.com]

• Cardiomegaly

  […] rhythm disorders Irregular heart beat Irregular heartbeat [ more ] 0011675 Arthropathy Disease of the joints 0003040 Ascites Accumulation of fluid in the abdomen 0001541 Autosomal recessive inheritance 0000007 Azoospermia Absent sperm in semen 0000027 Cardiomegaly [rarediseases.info.nih.gov]

• Arthralgia

  Early onset arthralgia, atypical arthropathy. Early onset male impotency, early menopause and loss of libido in women. Early onset arrhythmias and cardiomyopathy. [newcastle-hospitals.org.uk]

  Symptoms include fatigue, hyperpigmentation, diabetes mellitus (" bronze diabetes "), and arthralgia. [amboss.com]

  The typical patient with HFE hemochromatosis is male, of European origin, aged 40-50 years, and presents with fatigue, skin pigmentation, arthralgia and/or hepatomegaly. [diapedia.org]

  […] studies, the frequency of C282Y homozygosity was 0.6% (30 of 4913 control individuals), and compound heterozygosity was present in 1.3% (43 of 3190 of the control population). [13] According to the EASL, disease penetrance based on symptoms (eg, fatigue, arthralgia [emedicine.medscape.com]

  Early symptoms of hemochromatosis are nonspecific and may include fatigue, arthralgia, abdominal pain and loss of libido. Signs and symptoms may include arthritis later, liver disease, diabetes, cardiac abnormalities and skin discoloration. [ivami.com]

• Iron Increased

  Since humans can not increase iron excretion, excess iron overload and can eventually damage the tissues and organs. For this reason, hemochromatosis is considered impaired iron overload. [ivami.com]

  Eventual organ dysfunction is the final step in a cascading sequence of events 5 : increased gastrointestinal absorption of iron increased cellular uptake of iron into non-RES liver is the primary organ of deposition pancreatic, cardiac, skeletal, and [radiopaedia.org]

  Undiagnosed and untreated hemochromatosis (too much iron) increases the risk for diseases and conditions such as: Diabetes mellitus Irregular heart beat or heart attack Arthritis (osteoarthritis, osteoporosis) Cirrhosis of the liver or liver cancer Gall [hemochromatosis.org]

For the half of these predisposed subjects, the phenotypic expression of the disease needs a treatment. This treatment is based upon repeated bloodletting which is generally considered as simple, safe and effective. [clinicaltrials.gov]

Most of all, I want to emphasize we have many, many options available in hemochromatosis treatment: Hemochromatosis Treatment Hemochromatosis Diet Hemochromatosis Supplements Personally, I have only 1 copy of the HFE gene and I express symptoms of iron [hemochromatosishelp.com]

Early diagnosis and treatment are important. Treatment may be able to prevent, delay, or sometimes reverse complications of the disease. Treatment may lead to higher energy levels and better quality of life. [medic8.com]

Most people begin treatment with weekly therapeutic phlebotomy, although sometimes treatment is initially twice a week if iron levels are very elevated. [rarediseases.info.nih.gov]

This amount of blood would typically contain 200 – 250 mg of iron. 2 Targeting treatment below 50 micrograms/L has been found to cause a paradoxical increase in iron absorption. 2 Table 2 shows treatment and monitoring information for patients undergoing [bpac.org.nz]

Prognosis Ferroportin disease form A has a benign course. Ferroportin disease form B is expected to have a good prognosis provided that patients are treated early, before the development of visceral complications. [orpha.net]

Because the presence of cirrhosis affects prognosis, when the ferritin is > 1000 ng/mL, liver biopsy is commonly done and tissue iron content is measured (when available). [merckmanuals.com]

Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. [rarediseases.org]

One phlebotomy session of 500 mL blood → removal of 250 mg iron Target levels: serum ferritin 20–50 μg/L ; hemoglobin > 12 g/dL (or 120 g/L ) Prognosis: initiation of therapy in the pre- cirrhotic phase → normal life expectancy and no organ damage Drug-induced [amboss.com]

Treatment and prognosis Treatment in primary disease involves frequent phlebotomy which improves symptoms such as hepatomegaly, skin pigmentation, lethargy, and abdominal pain. However, arthritis is not affected by therapy. [radiopaedia.org]

Etiology Ferroportin disease is due to mutations in the SLC40A1 gene located on chromosome 2, which encodes for ferroportin (FPN), an iron exporter negatively regulated by the hepcidin hormone. [orpha.net]

Etiology Primary (hereditary) hemochromatosis Classical and most frequent form: adult hemochromatosis type 1 Homozygous or heterozygous for the HFE gene defect Located on chromosome 6 Most commonly affects C282Y and H63 Inheritance: autosomal recessive [amboss.com]

Etiology frequent transfusion mainly depositional siderosis in the reticuloendothelial system (RES) if > 40 units transfused: then may cause hemochromatosis (non-RES iron deposition) high erythrogenic requirements ( hemolytic anemia, myelodysplasia) mainly [radiopaedia.org]

Iron overload, irrespective of the underlying etiology, has varying manifestations, depending on the organs affected by the excessive iron deposit. [karger.com]

Symptoms and Signs The clinical consequences of iron overload are the same regardless of the etiology and pathophysiology of the overload. Historically, experts believed that symptoms did not develop until significant organ damage had occurred. [merckmanuals.com]

Epidemiology References: [1] [2] [3] Epidemiological data refers to the US, unless otherwise specified. [amboss.com]

The aim of this study was to assess the impact of the HFE gene discovery on the clinical presentation and epidemiology of HH. [bmcmedgenet.biomedcentral.com]

Summary Epidemiology HH type 4 is less rare than the other rare forms of HH, hemochromatosis type 2 or type 3 (see these terms). Fewer than 200 cases have been reported in the literature. It has a worldwide distribution. [orpha.net]

Epidemiology and diagnostic testing for hemochromatosis and iron overload. Int J Lab Hematol. 2015; 37 Suppl 1:25-30. doi: 10.1111/ijlh.12347. PMID: 25976957 Papanikolaou, G, et al. [invitae.com]

Suzuki, T., et al., Japanese epidemiological survey with consensus statement on Japanese guidelines for treatment of iron overload in bone marrow failure syndromes. Int J Hematol, 2008. 88(1): p. 30-5. 26. [wikitree.com]

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Hereditary hemochromatosis (HH) is an autosomal recessive disorder of iron metabolism with a carrier frequency of approximately [mayomedicallaboratories.com]

The listed functions do not, at least at this time, always account for the known pathophysiological features associated with gene mutation. [toomuchiron.ca]

[…] ineffective erythropoiesis with disturbances in the uptake of iron in heme or iron metabolism disorder → iron overload Examples: hereditary sideroblastic anemia ; anemia of chronic disease Excessive alcohol consumption References: [4] [2] [5] [6] [7] Pathophysiology [amboss.com]

[…] normal 2 - 6 g) Most common single gene disorder in whites 80% males because menstruation and pregnancy delay iron accumulation in women 1/220 of Northern European ancestry are homozygous for mutation; 1/11 are heterozygous; thus disease is very common Pathophysiology [pathologyoutlines.com]

Clinical Picture: The clinical consequences of iron overload are the same regardless of the etiology and pathophysiology of the overload. [askhematologist.com]

Such complications can generally be prevented by phlebotomy, and patients have a normal life expectancy if treated before organ damage occurs. [mayomedicallaboratories.com]

Preventive Services Task Force (2006). Summary of Screening Recommendations and Supporting Documents. Retrieved 18 March 2007 ^ "Hemochromatosis: Treatments and drugs". [en.wikipedia.org]

The C282Y mutation prevents association of HFE and β2m ( β 2 ). [clinchem.aaccjnls.org]

How Can Haemochromatosis Be Prevented? If you have two copies of the haemochromatosis gene, you cannot prevent the development of iron overload disease. But not everyone who inherits the haemochromatosis genes develops iron overload disease. [medic8.com]

HH can be treated or prevented by periodic phlebotomies. This simple and efficient treatment prevents iron accumulation and clinical complications. [bmcmedgenet.biomedcentral.com]