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Mediterranean Anemia-Thalassemia

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1 Mediterranean Anemia-Thalassemia
Kakavoulis Nikolaos Patras Ioannis

2 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.

3 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.

4 GeneticTypes of Thalassaemia :
There are two basic groups of thalassaemia. Alpha (  )Thalassaemia Beta (  )Thalassaemia

5 Normal Human Haemoglobins
Structural formula Adult Hb-A 2  % Hb-A2 2  % Fetal (And 1% in adults) Hb-F 2  % Embryonic Hb-Gower 1 2 2 Hb-Gower 2 2 2 Hb-Portland 2 2

6 Chromosomes

7 β Thalassemia 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 Different populations  de novo method of thalassemia developed



10 Clinical Outcomes of 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 Cooley asymptomatic at birth due to presence of HbF. As HbF decreases and HbB increases, pt develops Cooley Anemia. Excess B Hb turn on programs that lead to cell death thus intramedd hemolysis. Splenomegaly due to tissue masses accum from overcomp of bone marrow. Risk of thromboses are multifactorial Pulm hypertension and CGH cause is unsure

11 Pathophysiology 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

12 Signs & Symptoms 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.



15 Laboratory Diagnosis 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 Mean corpuscular volume


17 Other Special Procedures
Globin Chain Testing - determines ratio of globin chains being produced. DNA Analysis - Determine specific defect at molecular DNA level.

18 Course and treatment of thalassaemia
If Untreated  thalassemia Major : Death in first or second decade of life Intermedia: variable life span Minor/Minima: Normal life span

19 Treatment for β Thalassemia
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)

20 Suggestions for encountering the disease in a more efficient way
Raising awareness for more frequent blood donations, since patients with β-thalasseamia require frequent transfusions 8th of May: Thalassemia awareness day.

21 References

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