Thalassaemias are a group of genetic disorders that result from reduced synthesis of the alpha or beta globin chains, with beta-thalassaemia more common in the Mediterranean region and alpha-thalassaemia more common in Southeast Asia. They are classified based on whether they involve alpha or beta globin and cause clinical syndromes ranging from transfusion-dependent thalassaemia major to non-transfusion dependent thalassaemia intermedia or minor. Lab diagnosis involves identifying abnormalities in hemoglobin electrophoresis and patterns seen with complete blood counts.

1. Thalassaemias
Dr. Umme Habiba

2.  These are a heterogeneous group of genetic disorders that result from a reduced rate of synthesis
of α or β chains.
 β‐Thalassaemia is more common in the Mediterranean region while α‐thalassaemia is more
common in the Far East
 B thalassemia is also called cooley ‘s anemia/ medeterranian anemia.

4. Distribution

5. Classification

6. Clinical syndromes
 TdT: transfusion dependent thalassaemia major,
 NTdT: non‐transfusion dependent thalassaemia (thalassaemia intermedia) with a moderate
degree of anaemia due to a variety of genetic defects
 thalassaemia minor, usually due to a carrier state for α‐ or β‐thalassaemia

9. α‐Thalassaemia syndromes

10. Beta thalassemia Syndromes

11. β‐Thalassaemia pathophysiology

16. Lab Diagnosis of Thalassemia

21. THANKS FOR ATTENTION
Queries are welcomed