Thalassemias — pathophysiology, molecular basics and diagnostics

Abstract

Thalassemias are genetically transmitted hemolytic anemias resulting from disturbance of the globins chain synthesis. The expression of these functional proteins of hemoglobin is compromised by mutations in the globin gene or regulatory region of this gene. More than 400 mutations have already been described, each of them may be of different clinical significance. Due to limited diagnostics there is still much to be learned about thalassemias, especially alpha-thalassemia, in the Polish population. This review aims to describe the pathophysiology, molecular basics and diagnostics of thalassemia from the Polish perspective and experience.