Disorders of Iron Metabolism — Flashcards

Flashcard 1: Primary _____ is due to mutations in the HFE gene on chromosome 6, leading to increased expression of DMT1 and decreased synthesis of Hepcidin

Answer: hemochromatosis

Flashcard 2: _____ is a measure of transferrin molecules in the blood

Answer: Total iron-binding capacity (TIBC)

Flashcard 3: Hb _____ results from globin chain mutations that stabilize iron in the ferric state, leading to congenital methemoglobinemia.

Answer: Iwata

Flashcard 4: Some of the iron absorbed in the duodenum is taken up by _____ for storage as ferritin

Answer: hepatocytes

Flashcard 5: _____ iron (meat-derived) is readily absorbed and enters the duodenal cell via the heme transporter

Answer: Heme

Flashcard 6: $\alpha$-thalassemia due to a _____ gene deletion is characterized by formation of \gamma_4 tetramers, known as Hb Barts

Answer: four

Extra: In $\alpha$-thalassemia with a 4-gene deletion (Hydrops fetalis), no $\alpha$-globin chains are produced. In the fetus, excess $\gamma$-chains form tetramers ($\gamma_4$), known as Hb Barts. These have such a high oxygen affinity that they do not release oxygen to tissues.

Flashcard 7: _____ is the most commonly used indicator for iron in low anemic areas

Answer: serum ferritin

Extra: 

Flashcard 8: Iron absorption inhibitors include: _____

Answer: phytates, oxalates, calcium, tannins

Flashcard 9: total body iron is _____ gm

Answer: 3-5

Extra: 

Flashcard 10: 1 gm of Hb contains _____ mg iron

Answer: 3.5

Extra: