1. THALASSEMIA

 Presented by:
 Livson Thomas
 CON, CMC Ludhiana.

2. Prevalence of Thalassemia

3. DEFINITION
 Thalassemia is a group of inherited/ hereditary
disorders characterized by reduced or absent
amounts of hemoglobin or synthesis of hemoglobin.

5. TWO BASIC GROUPS OF THALASSEMIA
DISORDER
 Alpha Thalassemia
 Beta Thalassemia: A person with this
disorder has two mutated genes

6. TYPES OF BETA THALASSEMIA
 Beta thalassemia minor– the mildest form of beta
thalassemia.
 Thalassemia trait - heterozygous disorder resulting in
mild hypochromic, microcytic hemolytic anemia.
 Beta thalassemia intermedia - Severity lies between
the minor and major.
 Beta thalassemia major - homozygous disorder
resulting in severe transfusion-dependent hemolytic
anemia.
6

7. CLINICAL FEATURES
 ANAEMIA
- Pallor
-Unexplained Fever
-Poor feeding
-Enlarged spleen and liver

8. WITH PROGRESSIVE ANAEMIA
 Anorexia
 Headache
 Restlessness
 Decreased activity tolerance

9. OTHER FEATURES
 Small stature
 Delayed sexual maturation
 Bronze complexion
 Failure to thrive, gross motor delay

10. BONE CHANGES
 Enlarged head
 Prominent frontal and parietal bone
 Flat and depressed bridge of nose
 Enlarged maxilla
 Generalized skeletal osteoporosis

11. HB ELECTROPHORESIS
A2 E A H
Bart’s
<10% = A2 F
>10% = E

12. MEDICAL MANAGEMENT
 BLOOD TRANSFUSION
 IRON CHELATION THERAPY
 FOLIC ACID SUPPLEMENTATION
 SPLEENECTOMY
 BONE MARROW TRANSPLANT

13. BONE MARROW TRANSPLANT

14. TYPES OF BMT
1. Autologous BMT
2. Allogenic BMT
3. Umbilical Cord BMT