Hemoglobin Variants and Hemoglobinopathies — Flashcards

Flashcard 1: Hb _____ results from globin chain mutations that stabilize iron in the ferric state, leading to congenital methemoglobinemia.

Answer: Iwata

Flashcard 2: Hemoglobin C disease occurs due to a point mutation that substitutes _____ with lysine

Answer: glutamic acid

Flashcard 3: Hb _____ is a low-affinity hemoglobin causing pseudoanemia.

Answer: Kansas

Flashcard 4: One normal type of hemoglobin is _____ which is composed of two alpha and two delta chains

Answer: HbA2

Flashcard 5: Which hemoglobin is the major Hb from 9 weeks to birth?_____

Answer: Fetal Hb

Flashcard 6: Methemoglobin has an _____ affinity for cyanide relative to hemoglobin

Answer: increased

Flashcard 7: $\alpha$-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 8: _____ is the most commonly used indicator for iron in low anemic areas

Answer: serum ferritin

Extra: 

Flashcard 9: Iron absorption inhibitors include: _____

Answer: phytates, oxalates, calcium, tannins

Flashcard 10: total body iron is _____ gm

Answer: 3-5

Extra: