Mediterranean anemia thalassemia
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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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Mediterranean Anemia-Thalassemia

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Mediterranean Anemia-Thalassemia


Patras Ioannis

What is Thalassaemia ?

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.

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.

GeneticTypesof Thalassaemia :

There are two basic groups of thalassaemia.

  • Alpha (  )Thalassaemia

  • Beta (  )Thalassaemia

Normal Human Haemoglobins


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

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

  • intramedullaryhemolysis (RBC die before full development)

  • peripheral hemolysis & splenomegaly

  • skeletal abnormalities (overcompensation by bone marrow)

  • increased risk of thromboses

  • pulmonary hypertension & heart failure


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

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.

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

  • Haemoglobinelectrophoresis

Other Special Procedures

Globin Chain Testing - determines ratio of globin chains being produced.

DNA Analysis - Determine specific defect at molecular DNA level.

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

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)

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.


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