Hemoglobinopathies Flashcards
Type of qualitative disease where mutations alter the amino acid sequence of a globin chain, altering the physiological properties of the variant hemoglobins.
Structural hemoglobinopathies
Quantitative disease where mutations impair production or translation of mRNA, leading to deficient globin chain biosynthesis.
Thalassemias
What is the difference in movement towards the anode in normal and mutant beta-chain?
Normal beta-chain migrates faster towards the anode, whereas mutant-beta chain only moves half-way towards it
In the conversion of ferrous ion to ferric ion, why can’t oxygen bind?
Ferrous ion had 6 valencies, whereas Ferric ion only has 5, and the side for binding O2 is absent
What is the mechanism of action of Hydroxyurea in Sickle cell?
Hydroxyurea boosts the levels of fetal hemoglobin, which lowers the concentration of Hb S within a cell resulting in less polymerization of the abnormal hemoglobin.
Why is Hydroxyurea used in Sickle Cell disease?
the boosting of HbF decreases RBC sickling, which leads to decreased pain and mortality
Is Sickle Cell a qualitative or quantitative disease? Why?
qualitative; 1 gene is replaced with another
Are thalassemias a qualitative or quantitative disease? Why?
quantitative; genes are changed or absent
If there is no oxygen binding, what happens to the color of blood?
the color of blood changes and is therefore chocolate colored
In CO poisoning, CO is competing with oxygen for binding to heme of hemoglobin; what happens to PO2, %saturation, and O2 content?
PO2: Normal
%saturation: decreased since CO competes with O2
O2 content: decreased
In Anemia, there isn’t a problem with O2 binding the heme of hemoglobin, but the hemoglobin content itself is decreased; what happens to PO2, %saturation, and O2 content?
PO2: Normal
%saturation: Normal
O2 content: decreased
