L1: Anemia - Hemolytic Anemia (2)

Question 1

Def of Thalassemia

Answer 1

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

Question 2

Introduction to Thalassemia

Answer 2

Question 3

Incidence of Thalassemia

Answer 3

Most common chronic hemolytic anemia)in Egypt & Mediterranean countries

Question 4

Inheritance of Thalassemia

Answer 4

Autosomal recessive

Question 5

Classification of Thalassemia

Answer 5

• Alpha-Thalassemia
• Beta-Thalassemia

Question 6

Overview of Alpha Thalassemia

Answer 6

Question 7

Alpha Thalassemia

• Forms

Answer 7

Question 8

Beta-Thalassemia

• Overview

Answer 8

Question 9

Beta-Thalassemia

• Forms

Answer 9

Question 10

CP of Thalassemia

Answer 10

Question 11

CP of Thalassemia

• CP of Chronic Hemolytic anemia

Answer 11

….

Question 12

CP of Thalassemia

• (Mongoloid or chipmunk face)

Answer 12

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

Question 13

CP of Thalassemia

• Splenomegaly

Answer 13

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

Question 14

CP of Thalassemia

• Hepatomegaly

§

Answer 14

and may be lymphadenopathy

Question 15

CP of Thalassemia

• Growth Retardation

Answer 15

& infantilism due to chronic anemia

Question 16

CP of Thalassemia

• Timing

Answer 16

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

Question 17

Complications of Thalassemia

Answer 17

Question 18

Complications of Thalassemia

• Osteoporosis

Answer 18

Hyperplastic marrow (bone marrow expansion with cortical thinning) → Osteoporosis.

Question 19

Complications of Thalassemia

• Hypersplenism

Answer 19

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

Question 20

Complications of Thalassemia

• Growth Retardation & Infintalism

Answer 20

Growth retardation & infantilism (due to chronic anemia)

Question 21

Complications of Thalassemia

• Hemosiderosis

Answer 21

Question 22

Complications of Thalassemia

• Complications of blood transfusion & post-splenectomy

Answer 22

….

Question 23

Complications of Thalassemia

• Gall Bladder Stones

Answer 23

…..

Question 24

Complications of Thalassemia

• Aplastic Crises

Answer 24

(due to Parvovirus B19 infection)

Question 25

Complications of **Thalassemia** - Megaloblastic Crises

Answer 25

(due to vit B12 deficiency)

Question 26

Causes of Death in **Thalassemia**

Answer 26

Question 27

Causes of Death in **Thalassemia** - Heart

Answer 27

Question 28

Causes of Death in **Thalassemia** - Chest

Answer 28

Question 29

Causes of Death in **Thalassemia** - Liver

Answer 29

Question 30

INVx for **Thalassemia**

Answer 30

Question 31

INVx for **Thalassemia** - PBE

Answer 31

Question 32

INVx for **Thalassemia** - BM Aspiration

Answer 32

Question 33

INVx for **Thalassemia** - HB Electrophoresis

Answer 33

Question 34

INVx for **Thalassemia** - Chemical Examination

Answer 34

Question 35

INVx for **Thalassemia** - Alkaline Denaturation Test

Answer 35

Hb F resists denaturation by alkalis (as NaOH).

Question 36

INVx for **Thalassemia** - Radiology

Answer 36

Question 37

INVx for **Thalassemia** - Others

Answer 37

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

Question 38

DDx of **Thalassemia**

Answer 38

Question 39

TTT of **Thalassemia**

Answer 39

No TTT

Question 40

TTT of **Thalassemia** - Thalassemia Minor

Question 41

TTT of **Thalassemia** - Thalassemia Major

Answer 41

Question 42

TTT of **Thalassemia Major** - Diet

Answer 42

- avoid a diet rich in iron

Question 43

TTT of **Thalassemia Major** - Packed RBCs

Answer 43

Question 44

TTT of **Thalassemia Major** - Folic Acid

Answer 44

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

Question 45

TTT of **Thalassemia Major** - Anitibiotics

Answer 45

(for recurrent infections)

Question 46

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

Answer 46

Question 47

TTT of **Thalassemia Major** - Spleenectomy

Answer 47

Question 48

Spleenectomy in TTT of **Thaalssemia** - Indications

Answer 48

Question 49

Spleenectomy in TTT of **Thaalssemia** - Precautions

Answer 49

Question 50

Spleenectomy in TTT of **Thaalssemia** - Complications

Answer 50

- Infection - Thromboembolism - Pulmonary hypertension

Question 51

TTT of **Thalassemia Major** - BM Transplant

Answer 51

from HLA-identical sibling → Most efficient treatment

Question 52

TTT of **Thalassemia Major** - Gene Therapy

Answer 52

...

Question 53

TTT of **Thalassemia Major** - Genetic Counseling

Answer 53

Analysis of fetal DNA PCR to detect Beta globin gene

Question 54

Prognosis of **Thalassemia Major**

Answer 54