What is the pathogenesis of hereditary haemochromatosis?

Hereditary hemochromatosis (HH) encompasses several inherited disorders of iron homeostasis characterized by increased gastrointestinal iron absorption and tissue iron deposition. The most common form of this disorder is HFE-related HH, nearly always caused by homozygosity for the C282Y mutation.

How is hereditary hemochromatosis diagnosed?

Doctors usually order blood tests to check for the gene mutations link that cause hemochromatosis. Finding two copies of the HFE link gene with the C282Y mutation confirms the diagnosis of primary hemochromatosis. Doctors usually order blood tests to check for the gene mutations that cause hemochromatosis.

What is the treatment for hereditary hemochromatosis?

The most common treatment of hereditary hemochromatosis is removal of blood (phlebotomy), which lowers the iron level. Blood removal is similar to the process of donating blood. It is usually done once per week until the iron levels are normal. This may require 9 to 12 months of weekly blood removal.

What is the mechanism of hemochromatosis?

The pathogenetic mechanism in hemochromatosis is that of continued, excessive absorption of dietary iron with loss of normal control mechanisms, leading to a gradual but vast expansion of storage iron as ferritin and especially as hemosiderin.

What is hemochromatosis diagnosis?

Hemochromatosis Symptoms The disease is usually diagnosed as a result of family screening or after a blood test indicates a high level of iron or abnormal liver enzymes. Early signs are nonspecific and may include: Weakness and fatigue. Increased skin pigmentation.

What blood test is used for hemochromatosis?

The two key tests to detect iron overload are: Serum transferrin saturation. This test measures the amount of iron bound to a protein (transferrin) that carries iron in your blood. Transferrin saturation values greater than 45% are considered too high.

What age is hemochromatosis diagnosis?

Hereditary hemochromatosis is present at birth. But most people don’t experience signs and symptoms until later in life — usually after the age of 40 in men and after age 60 in women. Women are more likely to develop symptoms after menopause, when they no longer lose iron with menstruation and pregnancy.

What is the difference between hemochromatosis and hereditary hemochromatosis?

Causes. Mutations in several genes can cause hereditary 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.

What diagnostic test is the gold standard for hemochromatosis?

4. Liver Biopsy: Liver biopsy remains the gold-standard diagnostic test for hemochromatosis. However, its use has now shifted from that of a major diagnostic tool to that for estimating prognosis and concomitant disease.