Thalassemia

Inherited disorder of hemoglobin synthesis characterized by reduced or absent one or more globin chasin of Hb.

Types: Alpha Thalassemia and Beta Thalassemia

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Symptoms

Risk Factors

Family history of Thalesimia. It is autosomal recessive diseases.

Prevention

Genetic counseling of couple want to have children
If genee present or currier of gene then arrested reproductive tests diagnosis is done which screens embryo in its early stages for mutations and then implanted with IVF.

How is it diagnosed?

By sign & symptoms.
CBC & Hb is reduced.
Peripheral blood film hypo chronic & Microcytosis
MCV less than 75 fl, ROW less than 14%
Retialocyte went se
DNA analysis to look for mutation gene
Parental testing Chorionic viler sampling ammiocan tesis.

How is it treated?

Mild Thalassemia: No meal for treatment.
Most to sever halassemia: Frequent blood transfusion.
Chelation therapy: To remove excess iron from blood. Fe build up due to regular transfusion.
Stem cell transplant: If eliminate life-long blood transfusion & drugs.

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