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