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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

Mediterranean Anemia-Thalassemia

KakavoulisNikolaos

Patras Ioannis

what is thalassaemia
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
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.
genetictypes of thalassaemia
GeneticTypesof Thalassaemia :

There are two basic groups of thalassaemia.

  • Alpha (  )Thalassaemia
  • Beta (  )Thalassaemia
thalassemia
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 thalassemia
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
pathophysiology
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

signs symptoms
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
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
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
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 thalassemia
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
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.

r eferences
References

http://www.mayoclinic.com/health/thalassemia/DS00905/DSECTION=treatments%2Dand%2Ddrugs

http://www.nlm.nih.gov/medlineplus/ency/article/000587.htm

http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/hematology/thalbeta.html

http://www.nhlbi.nih.gov/health/health-topics/topics/thalassemia/

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