Most of the clinical findings in the porphyrias are related to: ...

[panfilo]

Most of the clinical findings in the porphyrias are related to:
 
  a. Accumulated porphyrin compounds in tissue
  b. Anemia
  c. Reduction in heme production
  d. Iron being unavailable

Question 2

Transfusion-related hemochromatosis is seen in patients who:
 
  a. Had an adverse reaction to a blood transfusion
  b. Received the wrong type of blood
  c. Had life-long repeated red cell transfusions
  d. Received a transfusion from a relative

[kjohnson]

Answer to Question 1

ANS: A
In the porphyrias (generally used to refer to the inherited forms as opposed to acquired), an enzyme is missing in the protoporphyrin IX synthesis pathway. When an enzyme is missing, the products from earlier stages in the pathway accumulate in the blood. Some of these are excreted, but they also deposit in body tissues, contributing to the clinical picture.

Answer to Question 2

ANS: C
When patients with chronic severe anemias are maintained with red cell transfusions, the iron in the transfused red cells adds to any iron that is being absorbed normally. No mechanism exists to rid the body of iron. Over years, this excess iron builds up and acquired hemochromatosis develops. Red cell transfusions are thus a double-edged sword for these patients. On one hand, they improve the quality of life and perhaps even save it for the patient; on the other, the eventual consequence after years of transfusions is acquired hemochromatosis.