10 Questions
What is the result of the interaction between the mutation of the beta-globin gene that causes HbS and the mutation of the beta-globin gene that causes HbE?
HbS/HbE syndrome
What is HbS/hereditary persistence of fetal Hb (S/HPFH)?
A hereditary condition associated with high levels of fetal hemoglobin
What are the rare combinations of HbS with other abnormal hemoglobins?
HbS/HbD, HbS/HbG, HbS/HbLepore
What is the genetic disorder that is characterized by the inability to metabolize the amino acid phenylalanine?
Phenylketonuria
What is a type of hemolytic anemia triggered by eating fava beans?
Favism
What is the amino acid associated with a genetic disorder?
Phenylalanine
What type of anemia is triggered by eating fava beans?
Hemolytic anemia
Which of the following is not a combination of HbS with other abnormal hemoglobins?
Phenylketonuria
What is the root cause of phenylketonuria?
Inability to metabolize phenylalanine
What is the relationship between favism and HbS?
Favism and HbS are unrelated genetic disorders
Study Notes
Sickle Cell Gene Defect
- A single nucleotide mutation causes the substitution of glutamic acid (E/Glu) with valine (V/Val)
- This mutation leads to monogenic disorders, which are the most common worldwide
Hemoglobin-Related Disorders
- Mutations affecting hemoglobin can result in:
- Reduced synthesis, leading to thalassemia
- Altered structure, leading to sickle cell disorders
- Specific combinations of hemoglobin mutations include:
- HbS/hereditary persistence of fetal Hb (S/HPFH)
- HbS/HbE syndrome
- Rare combinations of HbS with other abnormal hemoglobins
Sickle Cell Gene Defect
- A single nucleotide mutation causes the substitution of glutamic acid (E/Glu) with valine (V/Val)
- This mutation leads to monogenic disorders, which are the most common worldwide
Hemoglobin-Related Disorders
- Mutations affecting hemoglobin can result in:
- Reduced synthesis, leading to thalassemia
- Altered structure, leading to sickle cell disorders
- Specific combinations of hemoglobin mutations include:
- HbS/hereditary persistence of fetal Hb (S/HPFH)
- HbS/HbE syndrome
- Rare combinations of HbS with other abnormal hemoglobins
This quiz covers the genetic mutation causing sickle cell disease, where a single nucleotide substitution leads to a change from glutamic acid to valine.
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