Thalassemia

Question 1

Thalassic is the Greek word for ____

Answer 1

Great sea

Question 2

Thalassemia results from what?

Answer 2

Reduced or absemt synthesis of alpha or beta globin chains

Question 3

Blood picture of thalassemia

Answer 3

Microcytic, hypochromic

Question 4

What is the impaired globin chain in beta thalassemia?

Answer 4

Beta globin chains

Question 5

Is beta thalassemia symptomatic or asymptomatic during the fetal life? Why?

Answer 5

Asymptomatic

Beta globin chains are not yet developed during that part of life. Hb F (alpha & gamma) is the predominant hemoglobin

Question 6

Untreated patients with Beta thalassemia major has what bone changes/deformities in children?

Answer 6

Hair on end appearance

Question 7

In children, excess iron causes:

Answer 7

Growth retardation
Absence of sexual maturity

Question 8

In adults, excess iron causes:

Answer 8

Cardiomyopathy
Fibrosis
Cirrhosis
Dysfunctional exocrine glands

Question 9

Elevated EPO level promotes the secretion of ____

Answer 9

Erythroferrone (ERFE)

Question 10

What does Erythroferrone do?

Answer 10

Downregulates hepcidin

Question 11

Blood picture of a silent carrier state of beta-thalassemia

Answer 11

Normocytic, normochromic

Question 12

How does Beta-thalassemia minor differentiate from the major state?

Answer 12

Only 1 β-globin gene is mutated. This causes minor effects compared to the Beta-thalassemia

Question 13

Reticulocyte count in Beta-thalassemia major

Answer 13

Increased

Question 14

In alpha thalassemia, what globin chain is in excess for the fetus and newborn?

Answer 14

Gamma globin chain

Question 15

Hb Bart is due to what?

Answer 15

Accumulation of gamma globin chains

Question 16

Silent carrier state of Alpha-thalassemia is due to the deletion of ______

Answer 16

One α-globin gene

Question 17

Alpha-thalassemia minor is due to the deletion of _____

Answer 17

Two α-globin gene

Question 18

Blood picture of alpha-thalassemia minor

Answer 18

Mild microcytic, hypochromic anemia

Question 19

Hb Bart is increased during _____

Answer 19

Fetal life

Question 20

Alpha-thalassemia intermedia is also termed as _____

Answer 20

Hb H disease

Question 21

Alpha-thalassemia intermedia is caused by the deletion of ______

Answer 21

Three α-globin gene

Question 22

Hb H disease is common among ____

Answer 22

Asians

Question 23

Hydrops fetalis symptoms and its cause

Answer 23

Heart failure, edema

Hb Bart’s high oxygen affinity