THALASSAEMIA

Thalassaemia Patient in Bangladesh

It is an inherited impairment of haemoglobin production, in which there is partial or complete failure to synthesis  a specefic  type of globin chain.  

Types:

1.     Beta  thalassaemia

2.     Alpha  thalassaemia

Beta thalassaemia

On reduction of beta chain:

1.     β⁰: Complete absence of beta chain synthesis.

2.     β⁺ :Incomplete reduction of beta chain synthesis.

Clinical classification:

1.     Thalassaemia major/cooley’s anemia: Total suppression of  beta chain synthesis

2.     Thalassaemia minor: Suppression of  beta chain synthesis is less severe.

Clinical Triad of Thalassaemia

1.     Anemia

2.     Jaundice

3.     Splenomegaly

Investigations

1)    CBC

2)    Haemoglobin Electrophoresis(confirmatory)

3)    Serum iron profile

a)     Serum iron

b)    Serum ferritin

c)     TIBC

4)    x-ray skull

a.     Widdening of  diploic space

b.     thinning of outer table

Treatment:

1)    Specific: Haemopoietic stem cell transplantation (HSCT)

2)    Supportive:  

v Blood transfusion (maintain more than 10mg/dl Hb)

v Folic acid

v Iron chelating agent: (Who need frequent blood transfusion)

                                                             i.      Oral: Deferiprone

                                                           ii.      Subcutaneous infusion: Desferrioxamine

3)    Counseling and screening

*Supertransfusion: Cronic blood transfusion is given to patient to achieve haemoglobin concentration more than 11gm/dl.

*Hypertransfusion: Cronic blood transfusion is given to patient to achieve haemoglobin concentration more than 14gm/dl.

REF: Robi sir, Assistant professor of Medicine, MMCH