I Thalassemia
Definition
Thalassemia is an inherited autosomal recessive disorder resulting in a person’s inability to synthesize structurally normal hemoglobin.
Pathophysiology
Patients have a genetic inability to synthesize structurally normal hemoglobin. Thalassemia major reflects an inability to form the chains of hemoglobin. As a result, adult hemoglobin A is not formed, and anemia develops during the first year of life as fetal hemoglobin disappears. Thalassemia minor reflects a heterozygote state that results in mild anemia. Thalassemia results from the lack of production of chains of adult hemoglobin. The homozygous form of thalassemia is incompatible with life, resulting in intrauterine demise or early neonatal death.
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