How Hemochromatosis is Diagnosed

Hemochromatosis should be diagnosed comprehensively by combining many aspects such as clinical manifestations, laboratory tests and liver biopsy. Hemochromatosis is an autosomal recessive hereditary disease. Due to the abnormal increase of iron absorption in the gastrointestinal tract, the iron load in the body is significantly increased (ferritin and serum iron are significantly elevated), which is deposited in the liver, heart, pancreas, and other important organs, causing functional damage to the organs. Common clinical manifestations include skin pigmentation, elevated blood glucose, enlarged liver with functional impairment, congestive heart failure, joint swelling and pain. In patients with hemochromatosis, laboratory tests show marked elevation of serum iron, serum ferritin, and transferrin saturation, and liver fibrosis or cirrhosis can be seen on liver puncture biopsy. When patients consider the possibility of hemochromatosis, they need to go to the hematology department in time to improve the six items of anemia, bone marrow aspiration and liver puncture biopsy and other tests, in order to make a clear diagnosis, and then formulate a treatment plan and actively treat the disease after evaluating the condition by a specialist.