This document discusses thalassemia, an inherited blood disorder characterized by reduced or absent hemoglobin. There are two main types: alpha thalassemia affects hemoglobin production; beta thalassemia has four forms ranging from mild (trait) to severe (major). Symptoms include anemia, fatigue, bone changes. Treatment involves blood transfusions, iron chelation therapy, and potentially splenectomy or bone marrow transplant.

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.
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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