Hemochromatosis sx and lab sx

Question 1

What are lab sx and sx of Hemochromatosis?

Answer 1

-aut. Recessive genetic condition with mutated HFE gene (related to HLA-3)🡪increased intestinal absorption of iron by enterocytes and release into blood

• Iron accumulation causes free radical damage in organs:
• —-Liver: dysfunction / ascites / cirrhosis
• —-pancreas: glucose intolerance (diabetogenic)
• —-heart: cardiac enlargement (LVF can leads to prominent pulmonary vasculature)

-Labs: serum iron, transferrin saturation (serum iron/TIBC), serum ferritin (storage) will all be increased; TIBC (indirect measure of transferrin) or Transferrin (transports iron in blood) will be decreased