Thalassemia

Question 1

Carrier rate of thalassemia is ____

Answer 1

5-8%

Question 2

Thalassemia is hereditary hemolytic anemia with frog like or mongoloid faces, skeletal changes and ____________ (hepatomegaly/splenomegaly)

Answer 2

Splenomegaly

Question 3

In thalassemia there is defective synthesis of hemoglobin chain, it has s autosomal __________(dominant/recessive)

Answer 3

Recessive

Question 4

If one of the parents is a beta thalassemia carrier so ____% children will be having beta thalassemia trait

Answer 4

50%

Question 5

If both parents are beta thalassemia carrier then
Thalassemia _____%
Healthy _____%
Thalassemia trait _____%

Answer 5

Thalassemia 25%
Healthy 25%
Thalassemia trait 50%

Question 6

Adult hemoglobin

___% HbA and ___% HbA2

Answer 6

98% HbA

2% HbA2

Question 7

Chromosome 11 ———> ___ globin chain

Chromosome 16 ———> ___ globin chain

Answer 7

Chromosome 11 ———> beta globin chain

Chromosome 16 ———> alpha globin chain

Question 8

Each cell has ____ million Hb molecules

Answer 8

640 million

Question 9

Alpha globin chain has ___ amino acids

Answer 9

141

Question 10

Beta globin chain has ___ amino acids

Answer 10

146

Question 11

Delta globin is found on _____ (HbF/HbA2)

Answer 11

HbA2

Question 12

Gamma globin is found in _____ (HbF/HbA2)

Answer 12

HbF

Question 13

Zeta globin is found in ____ (HbE/HbC)

Answer 13

HbE (embryonic hemoglobin)

Question 14

Gene deletion on chromosome 16p results in _______ thalassemia

Answer 14

Alpha

Question 15

We have four genes on two chromosomes;chromosome 16(maternal and paternal) for ______globins

Answer 15

Alpha

Question 16

We have two genes on two chromosomes;chromosome 11(maternal and paternal) for ______globins

Answer 16

Beta

Question 17

Point mutation in chromosome 11 results in ______ thalassemia

Answer 17

Beta

Question 18

Delta and gamma genes are found on chromosome ___

Answer 18

11

Question 19

Zeta globin genes are found on chromosome ____

Answer 19

16

Question 20

We have ___ (one/two) gene(s) for zeta globin on one chromosome 16

Answer 20

Two

Question 21

If 1 gene is deleted on chromosome 16, then we call

Answer 21

Silent carrier for alpha thalassemia

Question 22

If 2 genes are deleted on chromosome 16, then we call

Answer 22

Trait (Minor)

Question 23

If 3 genes are deleted on chromosome 16, then we call

Answer 23

Hemoglobin H disease (intermediate)

Question 24

If all 4 genes are deleted on chromosome 16, then we will have

Answer 24

Alpha thalassemia major (Hemoglobin bart)

Question 25

If two genes are mutated on chromosome 11, we call it ____________

Answer 25

Beta thalassemia major (Cooley anemia)

Question 26

Whenever alpha genes are deficient, then we have excess ______ and _______ globin

Answer 26

Beta and gamma (gamma in newborns only)

Question 27

Alpha thalassemia involves three hemoglobin types.

Answer 27

HbA HbA2 HbF

Question 28

When 4 beta globin chains form a hemoglobin molecule, we call it _____

Answer 28

HbH

Question 29

When 4 gamma globin chains form a hemoglobin molecule, we call it _____

Answer 29

Hemoglobin bart

Question 30

Alpha Thalassemia trait (two deletions) there is mild _______ _______ anemia

Answer 30

Hypochromic microcytic anemia

Question 31

Alpha thalassemia with four deletions result in _________

Answer 31

Hydrops fetalis (in utero or early neonatal death)

Question 32

Excess beta hemoglobin lead to ____________

Answer 32

Hydrops fetalis

Question 33

What does β0 mean in β-Thalassemia?

Answer 33

Complete absence of production of β-globin on the affected allele

Question 34

What does β+ mean in β-Thalassemia?

Answer 34

Some residual production of β-globin (around 10%)

Question 35

What does β++ mean in β-Thalassemia?

Answer 35

Reduction in β-globin production is very mild

Question 36

If low β chain synthesis it will lead to low amount of ____

Answer 36

HbA

Question 37

If loss of one gene in β-thalassemia (trait) then ____ (HbA2/HbF) wil increase

Answer 37

HbA2

Question 38

β-Thalassemia intermediate can have two types.

Answer 38

β0β+ or β+β+

Question 39

β-Thalassemia major have lost both gene and we can represent it by ______

Answer 39

β0β0

Question 40

How to diagnose thalassemia

Answer 40

History Examination Lab investigation Screening family members

Question 41

Silent carrier of alpha thalassemia are __________

Answer 41

asymptomatic

Question 42

Alpha thalassemia minor have no anemia but __________ (microcytosis/spherocytosis)

Answer 42

microcytosis

Question 43

Alpha thalassemia intermedia (Hemoglobin H) symptoms are

Answer 43

Anemia and microcytosis Bone deformities Splenomegaly

Question 44

What is hemoglobin constant spring?

Answer 44

It is similar to HbH but no microcytosis Anemia Growth delay

Question 45

Excess free alpha globin chains undergo denaturation and form heme and hemichrome result in either in hemolysis or ineffective erythropoiesis or membrane binding of IgG and C3

Answer 45

Just remember it (β Thalassemia Pathophysiology)

Question 46

Hemolysis, ineffective erythropoiesis and membrane binding of IgG and C3 to RBCs can lead to anemia

Answer 46

Just remember it (β Thalassemia Pathophysiology)

Question 47

Anemia, high erythropoietin levels and splenomegaly causes erythroid marrow expansion

Answer 47

Just remember it (β Thalassemia Pathophysiology)

Question 48

Erythroid marrow expansion leads to skeletal deformities, osteopenia and iron overload.

Answer 48

Just remember it (β Thalassemia Pathophysiology)

Question 49

β Thalassemia Major patient present at the age of ______

Answer 49

4-6 months or child younger than 2 years

Question 50

β Thalassemia Intermedia presents at ______ age

Answer 50

later

Question 51

What are some clinical features of β Thalassemia major

Answer 51

Anemia Hepatosplenomegaly Growth failure

Question 52

Thalassemia facies and hepatosplenomegaly (due to extramedullary hematopoiesis) are features of ______________

Answer 52

β Thalassemia intermedia

Question 53

Hb lower than 7g/dL and HbF more than 90% suggests the patient is β Thalassemia ________ (Major/Intermedia/trait)

Answer 53

β Thalassemia major

Question 54

HbA is usually ___________ (absent/lower/higher) in β Thalassemia major patients

Answer 54

absent

Question 55

HbA2 is normal or _______ (low/high) in β Thalassemia major patients

Answer 55

high

Question 56

Hb in range of 8-10g/dL and HbF more than 10% suggests the patient has β Thalassemia ________ (Major/Intermedia/trait)

Answer 56

Intermedia

Question 57

HbA2 is 4-9% and HbA is 5-90%, the patient is having β Thalassemia ________ (Major/Intermedia/trait)

Answer 57

Intermedia

Question 58

If Hb is more than 10g/dL and HbF is 2.5-5% then the patient is said to have β Thalassemia ________ (Major/Intermedia/trait)

Answer 58

Trait

Question 59

In β Thalassemia trait, MCH is more than ____ pg

Answer 59

27

Question 60

HbA is more than 90% in people with β Thalassemia ________ (Major/Intermedia/trait)

Answer 60

Trait (21:27)