Thalassemia

Question 1

What type of disorder is thalassemia

Answer 1

genetic disorder

Question 2

Disorder that results from abnormalities in the synthesis of the hemoglobin molecule contained in red blood cells

Answer 2

Thalassemia

Question 3

what is the inheritance pattern of thalassemia

Answer 3

AR

Question 4

how many genes code for alpha chain

Answer 4

4

Question 5

how many genes code for beta chains

Answer 5

2

Question 6

which gene is present in chromosome 16

Answer 6

alpha

Question 7

which genes are present on chromosome 11

Answer 7

beta, gamma, delta

Question 8

the percentage of HbA

Answer 8

97%

Question 9

the percentage of Hb A2

Answer 9

2.5%

Question 10

percentage of HbF

Answer 10

< 1%

Question 11

alpha thalassemia mechanism

Answer 11

gene deletion chromosome 16

Question 12

beta thalassemia mechanism

Answer 12

point mutation chromosome 11

Question 13

silent career with little signs

Answer 13

a-/aa

Question 14

–/aa

Answer 14

cis double deletion

Question 15

-a/-a

Answer 15

trans double deletion

Question 16

what is more common double deletion

Answer 16

cis

Question 17

–/-a

Answer 17

HbH

Question 18

–/–

Answer 18

Hb barts

Question 19

where is the point mutation in beta thalassemia

Answer 19

in control region

Question 20

when is beta thalassemia appear

Answer 20

when HbF gets substituted by HbA

Question 21

what indicates high Hb A2 and HbF

Answer 21

beta thalassemia

Question 22

serum fe in thalassemia

Answer 22

normal or increase

Question 23

ferritin in thalassemia

Answer 23

normal or elevated

Question 24

TIBC in thalassemia

Answer 24

normal or decreased

Question 25

% sat in thalassemia

Answer 25

N or elevated

Question 26

RBC in thalassemia

Answer 26

normal or elevated

Question 27

MCV in thalassemia

Answer 27

decreased

Question 28

MCH in thalassemia

Answer 28

decreased

Question 29

RDW in thalassemia

Answer 29

normal

Question 30

how do we diagnose Thalassemia

Answer 30

Diagnosis by molecular means if parents both known to be carriers of thalassemia

Question 31

HbF protects infants with b thalassemia until which age

Answer 31

6 months

Question 32

sickle cell beta thalassemia severity depends on

Answer 32

amount of b globe synthesis

Question 33

when does a patient with b thalassemia be subjected to aplastic anemia

Answer 33

secondary to infection with parvovirus b19

Question 34

diagnosis 6-24 months most probably is

Answer 34

beta thalassemia major

Question 35

diagnosis 2-6 years most probably is

Answer 35

b/ a thalassemia minor or intermedia

Question 36

coombs test in thalassemia is

Answer 36

negative

Question 37

in thalassemia haptoglobin will be

Answer 37

decreased

Question 38

confirmatory diagnostic studies

Answer 38

hb electrophoresis automated HPLC genetic studies (pcr based) bone marrow aspiration

Question 39

patient with HbA2 >3.5%

Answer 39

b thalassemia minor

Question 40

skull xray features

Answer 40

chipmunk face crew cut sign

Question 41

Management in Thalassemia minor

Answer 41

-Usually no treatment required -Episodic folic acid supplementation may be indicated (e.g., during pregnancy, acute infections)

Question 42

Management in thalassemia major and intermedia

Answer 42

1. Transfusion therapy (erythrocyte concentrates) -Indication (for transfusion-dependent thalassemias): Hb < 7 g/dL or marked clinical symptoms -Target: Hb > 9–10 g/dL 2. Surveillance and treatment of complications -Iron overload diseases: chelating agents, e.g., deferasirox, indicated when iron accumulation reaches toxic levels -Other complications: e.g., gallstones, asplenia, extramedullary hematopoietic pseudotumors

Question 43

Management of thalassemia in select patients

Answer 43

1. Splenectomy 2. Potentially curative treatment -Stem cell transplantation: allogenic HSCT -Gene therapy