Hemoglobinopathies

Question 1

Structure of HbA?

Answer 1

Alpha2Beta2

Question 2

Structure of HbA2?

Answer 2

Alpha2Delta2

Question 3

Structure of HbF?

Answer 3

Alpha2Gamma2

Question 4

Structure of Hb Barts?

Answer 4

Gamma4

Question 5

Structure of HbH?

Answer 5

Beta4

Question 6

HbS: Mutation, Distribution, Clinical Significance?

Answer 6

• Beta6 glu–>val
• Africa, India, Mediterranean
• Sickle cell disease (HbSS, etc.)

Question 7

HbE: Mutation, Distribution, Clinical Significance?

Answer 7

• Beta26 glu–>lys
• Southeast Asia
• Thalassemia (HbE/Beta thal) & Sickle cell disease ( (HbSE)

Question 8

HbC: Mutation, Distribution, Clinical Significance?

Answer 8

• Beta6 glu–>lys
• Western Africa
• Hemolytic anemia (HbCC) & Sickle cell disease (HbSC)

Question 9

HbDPunjab/LA: Mutation, Distribution, Clinical Significance?

Answer 9

• Beta121 glu–>gln
• India, Pakistan, Iran
• Sickle cell disease (HbSD)

Question 10

HbOArab: Mutation, Distribution, Clinical Significance?

Answer 10

• Beta121 glu–>lys
• Africa, Middle East
• Sickle cell disease (HbSO)