Anemia - Thalassemia

Question 2

Def of Thalassemia

Answer 2

• Congenital chronic hemolytic anemia due to the presence of an abnormal Hb

Question 3

Inheritance of Thalassemia

Answer 3

Autosomal recessive

Question 4

Classification of Thalassemia

Answer 4

• Alpha-Thalassemia
• Beta-Thalassemia

Question 5

Overview of Alpha Thalassemia

Answer 5

Question 6

Alpha Thalassemia

• Forms

Answer 6

Question 7

Beta-Thalassemia

• Overview

Answer 7

Question 8

Beta-Thalassemia

• Forms

Answer 8

Question 9

CP of Thalassemia

Answer 9

Question 10

CP of Thalassemia

• (Mongoloid or chipmunk face)

Answer 10

Due to bone marrow hyperplasia
- Protrusion of frontal and parietal bones.
- Protrusion of the superior maxilla and prognathism.
- Depressed nasal bridge

Question 11

CP of Thalassemia

• Splenomegaly

Answer 11

due to
- Destruction of abnormal RBCs.
- Formation of new RBCs.
- Hemosiderosis
- 2Y hypersplenism

Question 12

CP of Thalassemia

• Timing

Answer 12

C/P usually occur at
- 12 months when Hb switches fror Hb F → Hb A

Question 13

Complications of Thalassemia

Answer 13

Question 14

Complications of Thalassemia

• Hypersplenism

Answer 14

Hypersplenism → Pancytopenia
- Shortened red cell life.
- Leucopenia.
- Thrombocytopenia.
- Plasma volume expansion due to increased immunoglobulin levels

Question 15

Complications of Thalassemia

• Hemosiderosis

Answer 15

Question 16

Causes of Death in Thalassemia

Answer 16

Question 17

INVx for Thalassemia

Answer 17

Question 18

INVx for Thalassemia

• PBE

Answer 18

Question 19

INVx for Thalassemia

• BM Aspiration

Answer 19

Question 20

INVx for Thalassemia

• HB Electrophoresis

Answer 20

Question 21

INVx for Thalassemia

• Chemical Examination

Answer 21

Question 22

INVx for Thalassemia

• Alkaline Denaturation Test

Answer 22

Hb F resists denaturation by alkalis (as NaOH).

Question 23

INVx for Thalassemia

• Radiology

Answer 23

Question 24

INVx for Thalassemia

• Others

Answer 24

• Gene study → For Confirmation → MOST Sensitive
• High-Performance Liquid Chromatography (HPLC)

Question 25

DDx of **Thalassemia**

Answer 25

Question 26

TTT of **Thalassemia**

Answer 26

No TTT

Question 27

TTT of **Thalassemia** - Thalassemia Minor

Question 28

TTT of **Thalassemia** - Thalassemia Major

Answer 28

Question 29

TTT of **Thalassemia Major** - Diet

Answer 29

- avoid a diet rich in iron

Question 30

TTT of **Thalassemia Major** - Packed RBCs

Answer 30

Question 31

TTT of **Thalassemia Major** - Folic Acid

Answer 31

5 - 10 mg/day oral (to avoid megaloblastic crisis)

Question 32

TTT of **Thalassemia Major** - Anitibiotics

Answer 32

(for recurrent infections)

Question 33

TTT of **Thalassemia Major** - Iron-Chelating Agents

Answer 33

Question 34

TTT of **Thalassemia Major** - Spleenectomy

Answer 34

Question 35

Spleenectomy in TTT of **Thaalssemia** - Indications

Answer 35

Question 36

Spleenectomy in TTT of **Thaalssemia** - Precautions

Answer 36

Question 37

Spleenectomy in TTT of **Thaalssemia** - Complications

Answer 37

- Infection - Thromboembolism - Pulmonary hypertension

Question 38

TTT of **Thalassemia Major** - BM Transplant

Answer 38

from HLA-identical sibling → Most efficient treatment

Question 39

TTT of **Thalassemia Major** - Gene Therapy

Answer 39

...

Question 40

TTT of **Thalassemia Major** - Genetic Counseling

Answer 40

Analysis of fetal DNA PCR to detect Beta globin gene

Question 41

Prognosis of **Thalassemia Major**

Answer 41