Hemochromatosis

Lab Tests and Results

Serum Iron Total Iron Binding Capacity can get up to 100% Serum Ferritin Test Liver Function Test MRI

Who Will Develop Hemochromatosis?

caucasians of Northern European descent people with liver disease

pathophysiology classification

cause disruption of hepcidin serum ferritin plasma transferrin

morphological classification

development of abnormally high iron levels throughout the body

Hemochromatosis

excessive iron in the body iron overload in body can lead to organ damage

Cause of Secondary Hemochromatosis

frequent blood transfusions, patients with anemia, sickle cell anemia, Falconi's syndrome

Causes of Hereditary Hemochromatosis

gene mutation of HFE gene

Avoiding

iron supplements vitamin c supplements alcohol

Early Clinical Symptoms

joint pain, fatigue, weakness, weight loss, stomach pain

Role of Hepcidin

listens to erthryroids need for iron. will only listen causing the hepatic stores and macrophages to keep releasing iron

Late Clinical Symptoms

liver disease and cirrhosis skin color change to orange or gray damage to adrenal gland

Serum Ferritin Test

measures amount of iron contained or stored in body normal range: 50-150

Treatment

phlebotomy, iron chelation therapy

3 types of hemochromatosis

primary (hereditary) secondary neonatal

Serum Ferritin

protein that correlates with amount of iron in the body increases as iron levels increase

Plasma Transferrin

protein that transport iron around body, main role is to deliver iron from absorption centers in liver and macrophages to tissues low levels cause iron to build up

MRI

show amount of iron in the liver

Liver Function Tests

show damage to liver