Mediterranean Anemia-Thalassemia. Kakavoulis Nikolaos Patras Ioannis. What is Thalassaemia ?. Thalassaemia is a group of inherited disorders of hemoglobin synthesis characterized by reduced or absen ce of one or more of the globin chains of adult hemoglobin .
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Thalassaemia is a group of inherited disorders of hemoglobin synthesis characterized by reduced or absenceof one or more of the globin chains of adult hemoglobin .
Genetically, it is autosomal recessive blood disease.
The name is derived from the Greek words Θάλασσα= Sea" and ”Αίμια= Blood" in reference to anemia of the sea.
There are two basic groups of thalassaemia.
β Thalassemia minor (trait)
β Thalassemia intermedia
β Thalassemia major (Cooley Anemia)
Disturbance of ratio between α & non-α globin chain synthesis then absence or decrease production of one or more globin chains
Formation of abnormal Hb structures
Excessive RBCs Destruction
Increased HbF expression
Thalassaemia Minor :
Usually no signs or symptoms
except for a mild anemia.
Thalassaemia Major :
1. Paleness, Jaundice or yellow coloured skin.
2. Growth retardation.
3. Bony abnormalities specially of the facial bones.
4. Enlarged spleen and liver.
Globin Chain Testing - determines ratio of globin chains being produced.
DNA Analysis - Determine specific defect at molecular DNA level.
Raising awareness for more frequent blood donations, since patients with β-thalasseamia require frequent transfusions
8th of May: Thalassemia awareness day.