The patients suffering from hemochromatosis have the following clinical picture.

• The skin of these patients acquires a bronze pigmentation due to the excessive amounts of melanin and iron in the exposed parts along with the axilla, groin and genitalia.
• The patients of hemochromatosis develop liver cirrhosis due to iron accumulation in the hepatic tissue. Cirrhosis may be the initial presenting feature in some of the patients.
• The accumulation of iron in the endocrine pancreatic tissue may cause the failure of insulin production and lead to secondary insulin dependent diabetes mellitus. Cirrhosis and diabetes may or may not be accompanied by heart failure and neurologic abnormalities respectively.
• The deposition of calcium pyrophosphate in the joints of these patients causes the development of arthritis along with chondrocalcinosis.
• There may be a number of sexual disturbances in the patients suffering from hemochromatosis. These include loss of libido, atrophy of the testes and impotence.

• Splenomegaly

  Regression on SF revealed significant associations: TS; male sex; age; GGT; transfusion units (positive); and splenomegaly (negative) (p < 0.0001, 0.0016, 0.0281, 0.0025, 0.0001, and 0.0096, respectively). [ncbi.nlm.nih.gov]

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

  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]

• Pain

  It improves and/or completely resolves symptoms of weakness, liver pain, joint pain, and fatigue. It improves function of the heart in patients with mild and early heart disease. [medicinenet.com]

  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]

  When symptoms do appear, the most common are chronic fatigue (feeling very tired) and joint pain. Some people with hemochromatosis have pain in their knuckles. This is called the "iron fist," and it can be a clue that a person has the disease. [my.clevelandclinic.org]

  Symptoms are rare, even in advanced cases, but when they occur they include joint pain, fatigue, abdominal pain and loss of sex drive. [emoryhealthcare.org]

• Fatigue

  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 majority of patients complained of fatigue (67.9%). Joint pain was also commonly reported (57.3%). When asked a series of questions to quantify level of fatigue 38.4% of patients had a fatigue severity score >36. [isge.ie]

  Sometimes the first symptoms are vague, such as fatigue or weakness, and may not be noticed or may be attributed to some other disorder. [merckmanuals.com]

  Untreated hemochromatosis can lead to extreme fatigue, joint problems, diabetes, abnormal skin pigmentation, cardiomyopathy, hormone disorders, hepatic cirrhosis, to even liver carcinoma. [grin.com]

• Congestive Heart Failure

  The prognosis is poor due to progressive congestive heart failure and refractory arrhythmias. Here we report a rare case of fatal cardiac hemochromatosis associated with HS. [ncbi.nlm.nih.gov]

  heart failure Operative total joint arthroplasty indications large joint involvement Orthopaedic Manifestations Bilateral ankle arthritis hemochromatosis should be suspected when symmetrical ankle arthropathy occurs in young men Please rate topic. [orthobullets.com]

  Hemochromatosis Pathology Cause(s) Genetic Symptoms Fatigue, malaise, cirrhosis, insulin resistance, erectile dysfunction, hypogonadism, congestive heart failure, arrythmia, pericarditis, arthritis, Mortality Rate Very high if untreated Treatments Bleeding [house.wikia.com]

  DNA testing for hemochromatosis should be performed on anyone with a family history of any of the following: a premature death by heart disease (heart attack, congestive heart failure) or liver disease (cirrhosis, liver cancer) diabetes mellitus skin [hemochromatosisdna.com]

• Weight Loss

  This article describes a patient who presented with abdominal pain, fatigue, poor appetite, and weight loss. [ncbi.nlm.nih.gov]

  Other symptoms of hemochromatosis include: Lack of energy Abdominal (belly) pain Loss of sex drive Loss of body hair Heart flutters Memory fog Weight loss Weakness Abnormal coloring of the skin (gray or bronze) Get useful, helpful and relevant health [my.clevelandclinic.org]

  Common symptoms include abdominal pain, weakness, lethargy, and unintended weight loss. Without treatment, classic hereditary hemochromatosis can progress to cause serious, life-threatening complications including failure of affected organs. [rarediseases.org]

  If you do, you may have joint pain, fatigue, general weakness, weight loss, and stomach pain. Your doctor will diagnose hemochromatosis based on your medical and family histories, a physical exam, and the results from tests and procedures. [medlineplus.gov]

• Ascites

  Subsequent to the first admission, the patient was admitted on several occasions for ascites. [peir.path.uab.edu]

  […] organ-related symptoms, hepatomegaly is seen in more than 95% of patients and can be accompanied by signs of chronic liver disease, such as abdominal pain and cutaneous stigmata of liver disease (palmar erythema, spider angioma, or jaundice), and liver failure (ascites [emedicine.medscape.com]

  Mild to moderate iron overload is seen to be common in those with chronic hepatitis C infection Abdominal pain, jaundice and liver failure (ascites or encephalopathy Due to progressive iron deposition in the liver parenchyma patient may eventually develop [medicaljoyworks.com]

  […] swelling in the joints (arthritis), particularly in the knuckles of the middle and index fingers In the later stages of the disease, symptoms include: abdominal pain or tenderness yellowing of the skin and eyes (jaundice) distention of the abdomen ( ascites [liver.ca]

• Abdominal Pain

  Symptoms are rare, even in advanced cases, but when they occur they include joint pain, fatigue, abdominal pain and loss of sex drive. [emoryhealthcare.org]

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

  Symptoms greatly vary among patients and include fatigue, abdominal pain, arthralgias, impotence, decreased libido, diabetes, and heart failure. [ncbi.nlm.nih.gov]

  Among organ-related symptoms, hepatomegaly is seen in more than 95% of patients and can be accompanied by signs of chronic liver disease, such as abdominal pain and cutaneous stigmata of liver disease (palmar erythema, spider angioma, or jaundice), and [emedicine.medscape.com]

  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]

• Heart Failure

  Symptomatic patients may experience weakness, fatigue, arthralgias, abdominal pain, liver failure (cirrhosis), symptoms of diabetes mellitus or heart failure, thyroid disorders, or impotence. [medical-dictionary.thefreedictionary.com]

  Despite intensive medical treatment for heart failure and arrhythmias in combination with iron chelation therapy, he eventually died of progressive and refractory heart failure. [ncbi.nlm.nih.gov]

  Hemochromatosis can sometimes involve the heart, causing heart failure or heart rhythm disturbances. Impotence ( erectile dysfunction ) can be seen in hemochromatosis due to testicular or pituitary involvement. [emedicinehealth.com]

  Eur Heart J. 1994, 15: 1616-1620. PubMed Google Scholar Pecini R, Moller DV, Torp-Pedersen C, Hassager C, Kober L: Heart failure etiology impacts survival of patients with heart failure. [bmcmedgenet.biomedcentral.com]

• Cardiomegaly

  She showed marked elevation of serum ferritin levels (3,210 ng/ml), cardiomegaly on chest X-p, conduction disturbance on electrocardiography, and high intensity of the left and right ventricular walls on plain chest CT indicating myocardial iron deposition [jsum.or.jp]

  […] intolerance, edema, cardiac arrhythmias, dyspnea, hepatosplenomegaly, ascites, spider telangiectasia, hyperpigmentation, palpitations, joint pain, ↓ ROM, impotence, and amenorrhea related to hypothalamic, cardiac, hepatic and pancreatic dysfunction; cardiomegaly [medical-dictionary.thefreedictionary.com]

  On radiographs, cardiomegaly with increased pulmonary vascular markings are seen. Echocardiography reveals the features of the restrictive type of cardiomyopathy. [emedicine.medscape.com]

• Hepatomegaly

  Liver abnormalities associated with classic hereditary hemochromatosis include hepatomegaly, and scarring of the liver (cirrhosis), high blood pressure of the branches of the portal vein (portal hypertension), which is the main vein that carries blood [rarediseases.org]

  Among organ-related symptoms, hepatomegaly is seen in more than 95% of patients and can be accompanied by signs of chronic liver disease, such as abdominal pain and cutaneous stigmata of liver disease (palmar erythema, spider angioma, or jaundice), and [emedicine.medscape.com]

  The early bio-clinical signs of HHC tend to be tiredness/general weakness, arthralgia, hepatomegaly and abnormal LFTs with increased ferritin and transferrin saturation. [newcastle-hospitals.org.uk]

  Examples of such epiphenomena are glycogen and lipid storage diseases, in which hepatomegaly is a manifestation of the underlying metabolic defect, although the liver is not necessarily the major target organ. [clevelandclinicmeded.com]

  […] liver disease or liver disease with abnormal iron markers Chronic unexplained fatigue, weakness and abdominal pain Asymptomatic patients with incidental elevated LFT, ferritin or hepatomegaly Early onset arthralgia (joint pain), atypical arthropathy [ucd.ie]

• Jaundice

  Here we report the case of a 16-year-old Chinese boy, who was admitted with hepatalgia, jaundice, hyperpigmentation, and splenomegaly to our hospital. [ncbi.nlm.nih.gov]

  The patient's last admission was necessitated by the development of symptoms and signs of hepatic failure (hepatic coma) characterized by jaundice Jaundice (or icterus) is a state of hyperbilirubinemia (increased bilirubin in the blood) in which bile [peir.path.uab.edu]

  Among organ-related symptoms, hepatomegaly is seen in more than 95% of patients and can be accompanied by signs of chronic liver disease, such as abdominal pain and cutaneous stigmata of liver disease (palmar erythema, spider angioma, or jaundice), and [emedicine.medscape.com]

  Mild to moderate iron overload is seen to be common in those with chronic hepatitis C infection Abdominal pain, jaundice and liver failure (ascites or encephalopathy Due to progressive iron deposition in the liver parenchyma patient may eventually develop [medicaljoyworks.com]

• Hepatosplenomegaly

  […] dysfunction in men (45% of patients with heretditary hemochromatosis) Amenorrhea Skin hyperpigmentation (like suntan) on both exposed and nonexposed areas; slate gray in late stages (75% of patients with hereditary hemochromatosis) Other manifestations Hepatosplenomegaly [faculty.washington.edu]

  […] the HLA locus on the short arm of chromosome 6 Epidemiology The gene occurs in 10% of the white population, most are unaffected heterozygotes; 5/1000 of US whites are homozygotes Clinical Fatigue, cold intolerance, edema, cardiac arrhythmias, dyspnea, hepatosplenomegaly [medical-dictionary.thefreedictionary.com]

• Arthritis

  […] extraction demographics usually presents in 4th-5th decade of life women usually present later than men due to the protective effect of iron loss during menses and pregnancy location multi-system disease hypogonadism diabetes liver cirrhosis cardiomyopathy arthritis [orthobullets.com]

  Due to the apparent difficulty in differentiating between the two diseases, a screening profile of iron in patients with rheumatoid arthritis with atypical progression is necessary. [ncbi.nlm.nih.gov]

  with signs and symptoms of osteoarthritis. 3. 4 Sometimes, it can be observed intermittent arthritis leading to misdiagnosis of rheumatoid arthritis. 5 Rheumatoid arthritis (RA) is a symmetric, progressive, autoimmune, chronic inflammatory polyarthritis [scielo.br]

  Patients with arthritis will be offered evaluation by the NIH Arthritis Service and, depending on symptoms, may be advised to have X-ray studies or a joint biopsy. [clinicaltrials.gov]

  Joint pain (arthralgia) and arthritis are also common in hemochromatosis. Hemochromatosis can sometimes involve the heart, causing heart failure or heart rhythm disturbances. [emedicinehealth.com]

• Arthralgia

  Symptoms greatly vary among patients and include fatigue, abdominal pain, arthralgias, impotence, decreased libido, diabetes, and heart failure. [ncbi.nlm.nih.gov]

  However, symptomatology of hereditary hemochromatosis has changed in recent years, and its full clinical expression is seen in only a minority of patients. [8] In addition, any patient admitted to the hospital with an isolated case of asthenia or with arthralgia [emedicine.medscape.com]

  The prevalences of fatigue, arthralgia and abnormal liver test results were higher in our group (85.5 vs 36.1%; 78.3 vs 24.4% and 46.6 vs 16.8%). [nature.com]

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

• Myalgia

  Other troubling musculoskeletal problems include severe, recurrent cramps and disabling myalgias. Muscle biopsy shows iron deposits in the myocytes, but the pathophysiologic connection to the pain and cramps is unclear. [sickle.bwh.harvard.edu]

• Large Joint Involvement

  […] arthroplasty indications large joint involvement Orthopaedic Manifestations Bilateral ankle arthritis hemochromatosis should be suspected when symmetrical ankle arthropathy occurs in young men Please rate topic. [orthobullets.com]

• Muscle Cramp

  The most frequently described but overall still rare adverse reactions during therapeutic apheresis procedures include reactions to the citrate used as anticoagulant, including muscle cramps, paraesthesias, and nausea. [journals.lww.com]

• Hyperpigmentation

  hyperpigmentation and actinic reticuloid. [emedicine.medscape.com]

  PubMed was used to search the following terms: hemochromatosis, hereditary, hyperpigmentation, hypopigmentation, keratosis, melanin, seborrheic, siderosis. [ncbi.nlm.nih.gov]

  […] treatment returns life expectancy to normal if patient non cirrhotic and no diabetic Presentation Symptoms classically presents with non-specific symptoms fatigue lethargy joint or muscle pain may present with systemic symptoms impotence diabetes skin hyperpigmentation [orthobullets.com]

• Loss of Libido

  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]

  Men: Impotence, loss of libido, gynecomastia, testicular atrophy. Women: Amenorrhea and loss of libido. Hereditary Hemochromatosis is one of the most common genetic diseases. [pathwaymedicine.org]

  Symptoms ofHemochromatosisEarly Stage Late Stage Fatigue  Arthritis Joint pain  Liver disease Abdominal pain  Diabetes Loss of libido  Heart abnormalities  Skin discoloration  Organ Failure 9. [slideshare.net]

  Initial symptoms of hemochromatosis may be non-specific including: weakness, lassitude, weight loss, change in skin color (discoloration), abdominal pain, and loss of libido. [emedicinehealth.com]

• Lethargy

  Symptomatic patients should be tested for thyroid function Tiredness, lethargy, cold intolerance, constipation etc These are symptoms suggestive of hypothyroidism. [medicaljoyworks.com]

  General symptoms comprise chronic fatigue, weakness, lethargy, and apathy. [emedicine.medscape.com]

  […] is most common Prognosis produces arthritis and chondrocalcinosis in > 50% of patients treatment returns life expectancy to normal if patient non cirrhotic and no diabetic Presentation Symptoms classically presents with non-specific symptoms fatigue lethargy [orthobullets.com]

  Early symptoms may include lethargy and weakness, irritability, depression, joint pain, yellowish skin, and loss of body hair. Regular treatment with phlebotomy or chelation therapy is needed to reduce iron levels. [urmc.rochester.edu]

• Apathy

  General symptoms comprise chronic fatigue, weakness, lethargy, and apathy. [emedicine.medscape.com]

  […] muscle) Loss of sex drive, impotence in men, absent or irregular menstrual periods and early menopause in women Arthritis, commonly in the knuckle and first joint of the first two fingers General symptoms including chronic fatigue, weakness, lethargy and apathy [dermnetnz.org]

  Early symptoms include arthralgias typically at the second and third MCPs, extreme fatigue, apathy, lethargy, weight loss, loss of libido, impotence, and right upper quadrant abdominal pain. [rheumatologyadvisor.com]

• Asthenia

  However, symptomatology of hereditary hemochromatosis has changed in recent years, and its full clinical expression is seen in only a minority of patients. [8] In addition, any patient admitted to the hospital with an isolated case of asthenia or with [emedicine.medscape.com]

  However, symptomatology of hereditary hemochromatosis has changed in recent years, and its full clinical expression is seen in only a minority of patients. [9] In addition, any patient admitted to the hospital with an isolated case of asthenia or with [emedicine.com]

• Sexual Dysfunction

  If this group contained a larger percentage of men with sexual dysfunction, then we would be underestimating the number of men with genetic hemochromatosis who experience sexual dysfunction. [nature.com]

  Thus, management of hypogonadism related complications such as osteoporosis, anergia, weakness, sexual dysfunction, and infertility could be more effective in patients with hemochromatosis. [hindawi.com]

  Patients most commonly present with nonspecific symptoms such as unexplained chronic fatigue (tiredness), weakness, joint pain or stiffness, sexual dysfunction, enlarged liver, diabetes, enlarged heart or abnormal laboratory results with high liver enzymes [ihtc.org]

  Sexual dysfunction - impotence is common in males and decreased libido in both males and females. Skin pigmentation - many patients present with bronzing of the skin. Palpitations. [tuh.ie]

• Amenorrhea

  Case Report A 26-year-old female patient was referred to our clinic with a 3 yr history of amenorrhea. [hindawi.com]

  These may also be related to development of cirrhosis Amenorrhea, loss of libido, impotence Hypogonadism due to pituitary iron deposition is a common endocrine abnormality associated with hemochromatosis. [medicaljoyworks.com]

  Complications Type 1 Diabetes (iron affects the functioning of the pancreas) Liver Cirrhosis Iron deposits in the pituitary and gonads lead to endocrine and sexual problems (hypogonadism, impotence, amenorrhea, infertility) Cardiomyopathy (iron deposits [zerotofinals.com]

  Women: Amenorrhea and loss of libido. Hereditary Hemochromatosis is one of the most common genetic diseases. However, clinical manifestation is highly variable and may not be severe in many patients. [pathwaymedicine.org]

  […] pain, hepatomegaly → liver cirrhosis (+ hepatocellular carcinoma) Fatigue, lethargy Hyperpigmented, bronze skin Signs of diabetes mellitus (polydipsia, polyuria) Arthralgia, chondrocalcinosis Erectile dysfunction, testicular atrophy, loss of libido, amenorrhea [amboss.com]

• Polyuria

  The classic triad consisting of cirrhosis, diabetes mellitus, and pigmentation of skin occurs late in the disease Polyuria, polydipsia, weight loss, lethargy etc. Diabetes mellitus is the most common endocrinopathy seen in these patients. [medicaljoyworks.com]

  […] in 75% of cases The onset of symptoms: typically between the 3rd and 5th decade of life Abdominal pain, hepatomegaly → liver cirrhosis (+ hepatocellular carcinoma) Fatigue, lethargy Hyperpigmented, bronze skin Signs of diabetes mellitus (polydipsia, polyuria [amboss.com]

The following investigations are helpful in establishing the diagnosis of hemochromatosis.

• Serum ferritin and iron concentration: Evaluation of the serum in the patients of hemochromatosis shows an increase in the amount of ferritin and iron concentration.
• Serum iron binding capacity: The patients of hemochromatosis have a reduced serum iron binding capacity.
• Biopsy of the liver: Upon the biopsy and histopathological examination of the hepatic tissue, heavy iron deposition along with fibrosis of the tissue is seen.
• Other tests:  Once hemochromatosis is confirmed, other tests will be required to find out whether or not the hemochromatosis is secondary to hemolytic disorders, multiple blood transfusions or dietary iron overload.

• Iron Increased

  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]

  HFE genotyping cannot provide information about the degree of increased body iron stores or organ damage. [emedicine.medscape.com]

  The outcome is increased intestinal iron absorption and predominantly hepatocellular accumulation of hepatic iron. [emedicine.com]

• Hyperglycemia

  Hemochromatosis is sometimes referred to as bronze diabetes because it can lead to darkening of the skin and hyperglycemia. Symptoms The symptoms of hemochromatosis occur gradually with signs often first becoming apparent after the age of 40. [diabetes.co.uk]

  Listeria monocytogenes, Mucor spp, Rhizopus arrhizus, Salmonella enteritidis serotype typhimurium, V vulnificus, Y enterocolitica Lab Transferrin saturation–TS > 62% warrants workup, ↑ iron, ↑ transferrin saturation, ↑ serum ferritin, ↑ transaminases, hyperglycemia [medical-dictionary.thefreedictionary.com]

  Similar to hyperglycemia in diabetes, the first abnormality in hemochromatosis is hyperferremia (which translates into increased TS). Ideally, measuring circulating hepcidin would help in diagnosing the disorder. [aasldpubs.onlinelibrary.wiley.com]

• Ferritin Increased

  In 1983, haemochromatosis was suspected because of abnormal skin pigmentation at the age of 60 years and confirmed by an elevated serum ferritin, increased transferrin saturation, and increased iron stores with micronodular cirrhosis on liver biopsy. [doi.org]

  His initial serum ferritin level was 1183 µg/l with increased transferrin saturation (87.5%). [cambridge.org]

  Of the C282Y homozygotes biopsied [those with increased transferrin (Tf) or ferritin], increased hepatic iron was seen in all samples. [clinchem.aaccjnls.org]

• Ferritin Increased

  In 1983, haemochromatosis was suspected because of abnormal skin pigmentation at the age of 60 years and confirmed by an elevated serum ferritin, increased transferrin saturation, and increased iron stores with micronodular cirrhosis on liver biopsy. [doi.org]

  His initial serum ferritin level was 1183 µg/l with increased transferrin saturation (87.5%). [cambridge.org]

  Of the C282Y homozygotes biopsied [those with increased transferrin (Tf) or ferritin], increased hepatic iron was seen in all samples. [clinchem.aaccjnls.org]

• Liver Enzymes Abnormal

  Mild liver enzyme abnormalities: eliminating hemochromatosis as a cause. Clin Chem 1997 ; 43 : 1535 -1538. ↵ Barton JC, Grindon AF, Barton NH, Bertoli LF. Hemochromatosis probands as blood donors. Transfusion 1999 ; 39 : 578 -585. ↵ View Abstract [clinchem.aaccjnls.org]

• Liver Biopsy

  Who should undergo liver biopsy? Not all patients with hemochromatosis need to undergo liver biopsy. The purpose of liver biopsy is to identify those patients with cirrhosis and to exclude other possible liver diseases. [medicinenet.com]

  For the liver biopsy, a thin needle is inserted into the liver while the patient is under local anesthesia. [medical-dictionary.thefreedictionary.com]

  […] on liver biopsy. [ncbi.nlm.nih.gov]

  Liver Biopsy During a liver biopsy, your doctor numbs an area near your liver and then removes a small sample of liver tissue using a needle. The tissue is then looked at under a microscope. A liver biopsy can show how much iron is in your liver. [nhlbi.nih.gov]

• Hepatocellular Carcinoma

  It is very rare to see hepatocellular carcinoma in the absence of evidence of liver injury. [ncbi.nlm.nih.gov]

  The development of cirrhosis increases the risk of hepatocellular carcinoma more than 200-fold. [ihtc.org]

• HLA-A3

  HLA A3 as in HA3mochromatosis! [amboss.com]

  Maladie associée à l'antigène tissulaire HLA-A3?. Nouv Presse Med. 1975; 3: 1432 Walters JM Watt PW Stevens FM McCarthy CF HLA antigens in haemochromatosis. [journal-of-hepatology.eu]

  on 6p, close to HLA gene and in linkage disequilibrium with HLA-A3 Common mutation (83% of primary cases) is cysteine to tyrosine at amino acid 282 (C282Y), which inactivates the protein and causes excess iron absorption of 3 - 4 mg/day vs. 1 - 2 mg [pathologyoutlines.com]

  Association of HLA-A3 and HLA-B14 antigens with idiopathic hemochromatosis. Gut, 17 (1976), pp. 332-334 [6.] M. Simon, M. Bourel, B. Genetet, et al. Idiopathic hemochro matosis. [archbronconeumol.org]

Complications from hemochromatosis, such as cirrhosis or diabetes, may also require treatment. Treatment for idiopathic pulmonary hemosiderosis is based on symptoms. [medical-dictionary.thefreedictionary.com]

They may also be used to monitor the effectiveness of treatment. [labtestsonline.org]

Treatment consists of phlebotomies in regular intervals in the fashion of bloodletting. With timely diagnosis and treatment, life expectancy and quality of life are hardly compromised. [grin.com]

SLIDESHOW Anemia Symptoms and Signs, Types, Treatment and Causes See Slideshow How is hemochromatosis treated? The most effective treatment for hemochromatosis is to reduce iron in the body by phlebotomy (withdrawal of blood from the arm veins). [medicinenet.com]

Treatment This serves to reduce iron levels in the body and bloodstream. 14. TreatmentIf treatment for hemochromatosis is sought promptly,affected individuals can lead completely normal lives! 15. [slideshare.net]

The prognosis of the patients suffering from hemochromatosis is not good [7]. Phlebotomy improves the prognosis at any stage of the disease. If hemochromatosis is detected early, phlebotomy may help prevent cirrhosis. If cirrhosis has already occurred, phlebotomy is still helpful in reducing the complications of the cirrhosis such as variceal bleeding from the esophagus. Up to 23% of the patients suffering from hepatic cirrhosis due to hemochromatosis develop hepatocellular carcinoma [8].

Depending upon the etiology, hemochromatosis can be classified as primary and secondary. Primary or idiopathic hemochromatosis is an inherited disease with an autosomal-recessive pattern. The defective gene is named HFE and is present on the short arm of chromosome 6 [2] [3]. Other mutations have been described in rare cases.

Secondary causes of iron overload are hemolytic anemias such as thalassemia in which multiple blood transfusions are required [4].

In the United States, the prevalence of hemochromatosis is 1 in 200 to 500 individuals. It is the most common autosomal-recessive inherited disease [5]. Hemochromatosis usually occurs in men above the age of 50 years.

Women are affected much less commonly as the loss of iron in menstrual bleeding prevents the accumulation of iron. Hemochromatosis is 6 times more common in whites as compared to blacks.

The normal iron content of the body is 3 to 4 grams. In hemochromatosis, there is excessive iron deposition in many organs throughout the body including the liver, pancreas, heart, adrenals, testes, pituitary and the kidneys. The iron is deposited in the form of hemosiderin. Deposition of hemosiderin causes fibrosis and functional failure of these organs which manifest as signs and symptoms of the disease [6].

In symptomatic hemochromatosis, the total iron content of the body is around 20 to 40 grams. In the pancreas and liver, the iron content may even be up to fifty to hundred times that of normal.

There is no effective preventive measure against the development of primary hemochromatosis. Secondary hemochromatosis can be prevented by prompt anticipation or diagnosis of any condition that could cause overload of iron (such as multiple blood transfusions and hemolytic anemias such thalassemia). Precautions can then be taken to reduce the likelihood of accumulation of iron.

Hemochromatosis is the condition in which there is excessive accumulation of iron in all the body tissues, particularly the liver, pancreas, heart, kidney and pituitary gland [1].

Hemochromatosis may be idiopathic or may result from secondary causes of iron overload. The patients present with deep bronze pigmentation of the skin. Liver cirrhosis and diabetes due to secondary pancreatic insufficiency are the most common features. The treatment of hemochromatosis consists of phlebotomy and chelation therapy.

Hemochromatosis is a condition in which the amount of iron in the body is increased. It accumulates in various organs of the body and interferes with their function. The patients usually have bronze discoloration of the skin along with failure of the liver and pancreas. The prognosis of the patients suffering from hemochromatosis is not very favorable.