3. DEFINITION
Thalassemia is a group of inherited/ hereditary
disorders characterized by reduced or absent
amounts of hemoglobin or synthesis of hemoglobin.
4.
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
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