Thalassemia is a group of inherited disorders caused by mutations that decrease the synthesis of the alpha and beta globin chains of hemoglobin, leading to anemia. The approach to diagnosing thalassemia involves taking a medical history focusing on factors like family history, clinical examination looking for signs of anemia, jaundice and skeletal abnormalities, and laboratory investigations including complete blood count, hemoglobin electrophoresis, bone marrow examination and genetic analysis to identify the specific mutation causing the condition.

1. Approach to
Thalassemia
Dr.T.Arivazhagan
Department of Pathology

3. Definition
• It is a heterogeneous group of disorders caused by
inherited mutations that decrease the synthesis of
either the α globin & β globin chains leading to
anemia, tissue hypoxia, red cell hemolysis.

5. Approach
• History
• Age
• Race
• Family h/o
• Clinical examination
• Pallor
• Jaundice
• Splenomegaly
• Skeletal abnormalities
• Pigmentation
• Extra medullary hematopoiesis
• Investigation
• Complete blood count( MCV,MCH,MCHC,RETICULOCYTE COUNT,PS)
• X Ray
• HB electrophoresis
• Bone marrow examination
• Genetic analysis

6. Peripheral smear
1. Anisocytosis
2. Poikilocytosis
3. Microcytic hypochromic picture
4. Target cells
5. Basophilic stippling
6. Fragmented red cells
7. Inclusion bodies