The diagnosis of haemochromatosis is often made following the incidental finding on routine blood screening of elevated serum liver enzymes or elevation of the transferrin saturation or elevated serum ferritin.. Arthropathy with stiff joints, diabetes, or fatigue, may be the presenting complaint. Blood tests Serum ferritin and fasting transferrin saturation are commonly used as screening for haemochromatosis. Transferrin binds iron and is responsible for iron transport in the blood. Measuring ferritin provides a crude measure of iron stores in the body. Fasting transferrin saturation values in excess of 45%, and the serum ferritin more than 250 ug/l in males and 200 ug/l in females are recognized as a threshold for further evaluation of haemochromatosis. Other source says that the normal values for males are 12-300 ng/ml and for female, 12-150 ng/ml. Fasting transferrin saturation is a better test to detect<unk> . Transferrin saturation greater than 62% is suggestive of homozygosity for mutations in the HFE gene. Ferritin, a protein synthesized by the liver, is the primary form of iron storage within cells and tissues. Measuring ferritin provides a crude estimate of whole-body iron stores, though many conditions, particularly inflammatory conditions, infection, chronic alcohol consumption (mainly >20g/day), liver disease, cancer, porphyria, Hemophagocytic lymphohistiocytosis, hyperthyroidism, obesity, metabolic syndrome, diabetes, several blood transfusions, too many iron supplements, aceruloplasminemia, atransferrinemia, hyperferritinemia cataract syndrome and others, can elevate serum ferritin, which can account for up to 90% of cases where elevated levels are observed. Measuring iron in the body Serum ferritin in excess of 1000 ng/ml of blood is almost always attributable to haemochromatosis. Other blood tests routinely performed include blood count, renal function, liver enzymes, electrolytes, and glucose (and/or an oral glucose tolerance test). Liver biopsy Liver biopsies involve taking a sample of tissue from the liver, using a thin needle. The amount of iron in the sample is then quantified and compared to normal, and evidence of liver damage, especially cirrhosis, is measured microscopically. Formerly, this was the only way to confirm a diagnosis of haemochromatosis, but measures of transferrin and ferritin along with a history are considered adequate in determining the presence of the malady. Risks of biopsy include bruising, bleeding, and infection. Now, when a history and measures of transferrin or ferritin point to haemochromatosis, whether a liver biopsy is still necessary to quantify the amount of accumulated iron is debatable. MRI MRI-based testing is a noninvasive and accurate alternative to measure liver iron concentrations. Other imaging Clinically, the disease may be silent, but characteristic radiological features may point to the diagnosis. The increased iron stores in the organs involved, especially in the liver and pancreas, result in characteristic findings on unenhanced CT and a decreased signal intensity in MRI scans. Haemochromatosis arthropathy includes degenerative osteoarthritis and chondrocalcinosis. The distribution of the arthropathy is distinctive, but not unique, frequently affecting the second and third metacarpophalangeal joints of the hand. The arthropathy can, therefore, be an early clue as to the diagnosis of haemochromatosis. Functional testing Based on the history, the doctor might consider specific tests to monitor organ dysfunction, such as an echocardiogram for heart failure, or blood glucose monitoring for patients with haemochromatosis diabetes. Stages The American Association for the Study of Liver Diseases suggests the following three stages for the condition (identified by the European Association for the Study of Liver Diseases): # Genetic susceptibility but no iron overload. Individuals who have the genetic disorder only. # Iron overload but no organ or tissue damage. # Organ or tissue damage as a result of iron deposition. Individuals at each stage do not necessarily progress on to the next stage, and end stage disease is more common in males. Differential diagnosis Other causes of excess iron accumulation exist, which have to be considered before haemochromatosis type 1 is diagnosed. * Haemochromatosis type 2. * Haemochromatosis type 3. * Haemochromatosis type 4. * Haemochromatosis type 5. * African iron overload, formerly known as Bantu siderosis, was first observed among people of African descent in Southern Africa. Originally, this was blamed on ungalvanised barrels used to store home-made beer, which led to increased oxidation and increased iron levels in the beer. Further investigation has shown that only some people drinking this sort of beer get an iron overload syndrome, and that a similar syndrome occurred in people of African descent who have had no contact with this kind of beer (e.g., African Americans). This led investigators to the discovery of a gene polymorphism in the gene for ferroportin, which predisposes some people of African descent to iron overload. * Secondary haemochromatosis: its main cause is the Transfusional haemosiderosis. It is the accumulation of iron, mainly in the liver, in patients who receive frequent blood transfusions (such as those with thalassaemia). Other causes are: chronic hemolytic anemia, chronic liver disease (hepatitis B, hepatitis C, cirrhosis, fatty liver disease), dysmetabolic hyperferritinemia, overdose of oral iron pills or iron injections, long-time kidney dialysis, and dyserythropoeisis, also known as myelodysplastic syndrome. It is a disorder in the production of red blood cells that leads to increased iron recycling from the bone marrow and accumulation in the liver. * Aceruloplasminemia. * Atransferrinemia. * Neonatal hemochromatosis * GRACILE syndrome * Porphyria cutanea tarda
Hereditary haemochromatosis
Hemochromatosis type 4
Juvenile hemochromatosis
Haemochromatosis type 3
Aceruloplasminemia
Non-alcoholic fatty liver disease
Familial cirrhosis
Wilson's disease