Mediterranean Anemia- Thalassemia Kakavoulis Nikolaos Patras Ioannis
What is Thalassaemia ? Thalassaemia is a group of inherited disorders of hemoglobin synthesis characterized by reduced or absence of 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.
Demographics: Thalassemia Found most frequently in the Mediterranean, Africa, Western and Southeast Asia, India and Burma 15% of the greek population have the ‘’T’’ gene.
There are two basic groups of thalassaemia. Alpha ( )Thalassaemia Beta ( )Thalassaemia GeneticTypes of Thalassaemia :
β Thalassemia: deficient/absent beta subunits Commonly found in Mediterranean, Middle East, Asia, and Africa Three types: Minor Intermedia Major (Cooley anemia) May be asymptomatic at birth as HbF functions β Thalassemia
β Thalassemia minor (trait) asymptomatic microcytosis minor anemia β Thalassemia intermedia symptoms similar to Cooley Anemia but less severe β Thalassemia major (Cooley Anemia) most severe form moderate to severe anemia intramedullary hemolysis (RBC die before full development) peripheral hemolysis & splenomegaly skeletal abnormalities (overcompensation by bone marrow) increased risk of thromboses pulmonary hypertension & heart failure Clinical Outcomes of β-Thalassemia
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 Ineffective erythropoiesis Excessive RBCs Destruction Iron Overload Extra-medullary hematopoiesis Increased HbF expression Pathophysiology
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. Signs & Symptoms
Thalassemia minor: Haemoglobin : Haemoglobin level is usually normal or mildly reduced. Peripheral blood film : Hypochromia and Microcytosis (similar to Iron Deficiency Anemia). MCV< 75 fl, RDW < 14%. Reticulocyte Count increases Decrease Osmotic Fragility Haemoglobin electrophoresis Laboratory Diagnosis
Globin Chain Testing - determines ratio of globin chains being produced. DNA Analysis - Determine specific defect at molecular DNA level. 17 Other Special Procedures
If Untreated thalassemia Major : Death in first or second decade of life Intermedia: variable life span Minor/Minima: Normal life span Course and treatment of thalassaemia
Trait – no treatment required Intermedia Major (Cooley anemia) Regular folate supplementation RBC transfusion (Splenectomy may decrease need for transfusions) to maintain [Hgb] ~9-10g/dL Blood transfusions iron accumulation iron overload Iron chelators (diferroxamin) Treatment for β Thalassemia
Raising awareness for more frequent blood donations, since patients with β-thalasseamia require frequent transfusions 8 th of May: Thalassemia awareness day. Suggestions for encountering the disease in a more efficient way