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Primary Hemochromatosis Type 1



  • 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]
  • 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]
  • 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]
  • Statistical analysis Data for groups are presented as means SD. Mean and median values were compared using Student’s t test and the Mann-Whitney rank-sum test as appropriate.[care.diabetesjournals.org]
  • Although females can exhibit the complete phenotype, they usually present with fatigue and pigmentation, whereas men usually present with cirrhosis and diabetes ( 3 ).[clinchem.aaccjnls.org]
Wound Infection
  • "Hemochromatosis and Vibrio vulnificus Wound Infections". J. Clin. Gastroenterol. 43 (9): 890–893. doi : 10.1097/MCG.0b013e31819069c1. PMID 19349902. Jolivet-Gougeon A, Loréal O, Ingels A, et al. (October 2008).[en.wikipedia.org]
  • 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]
  • […] 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]
  • As the liver disease progresses, portal hypertension with ascites, splenomegaly, and additional cutaneous features of chronic liver disease become apparent.[clevelandclinicmeded.com]
Abdominal Pain
  • 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]
  • 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]
  • For this reason, hereditary hemochromatosis is also called an iron overload disorder.Early symptoms of hereditary hemochromatosis are nonspecific and may include fatigue, joint pain, abdominal pain, and loss of sex drive.[icdlist.com]
  • […] 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]
  • 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]


Iron Increased
  • It is believed that encoding hepcidin in liver iron increases when blood enters liver cells. Hepcidin is released into the bloodstream and circulates throughout the body.[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]


  • 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]
  • This condition can often be reversed with treatment for haemochromatosis.[en.wikipedia.org]
  • This simple and efficient treatment prevents iron accumulation and clinical complications. Without this early treatment, the disease may progress towards irreversible damage such as cirrhosis and hepatocellular carcinoma [ 17 – 19 ].[bmcmedgenet.biomedcentral.com]
  • Iron depletion with phlebotomy is the mainstay of treatment of HH- HFE.[nature.com]
  • 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]


  • 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]
  • Therefore, the prognosis of this group of individuals is more difficult to ascertain.[nature.com]
  • 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]


  • 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]


  • 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]
  • Epidemiology References: [1] [2] [3] Epidemiological data refers to the US, unless otherwise specified.[amboss.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]
  • Relation of hemochromatosis with hepatocellular carcinoma: epidemiology, natural history, pathophysiology, screening, treatment, and prevention. Med Clin North Am 2005; 89 : 391–409. 27. Beutler E, Felitti VJ, Koziol JA, Ho NJ, Gelbart T.[nature.com]
  • 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]
Sex distribution
Age distribution


  • 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]
  • Pathophysiology [ edit ] The normal distribution of body iron stores Since the regulation of iron metabolism is still poorly understood, a clear model of how haemochromatosis operates is still not available.[en.wikipedia.org]
  • 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]


  • Such complications can generally be prevented by phlebotomy, and patients have a normal life expectancy if treated before organ damage occurs.[mayomedicallaboratories.com]
  • "The interaction of iron and erythropoietin". a b Iron Overload and Hemochromatosis Centers for Disease Control and Prevention "Celtic Curse". a b "hemochromatosis".[en.wikipedia.org]
  • The C282Y mutation prevents association of HFE and β2m ( β 2 ).[clinchem.aaccjnls.org]
  • HH can be treated or prevented by periodic phlebotomies. This simple and efficient treatment prevents iron accumulation and clinical complications.[bmcmedgenet.biomedcentral.com]
  • If hemochromatosis is identified early and treatment like therapeutic phlebotomy is effective and well tolerated, then symptoms and disease is potentially entirely preventable![hemochromatosishelp.com]

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