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Thalassemias and hemoglobin variants in children

Publication |
2017

Abstract

Hemoglobinopathies (thalassemias and structural hemoglobin variants) represent a group of inhereted microcytic anemias that are rarely diagnosed in our country. In most cases, these are individual patients or families, often with a different ethnic origin.

Clinical manifestation can be heterogenic - from mild microcytic hypochromic anemia to severe, lifelong, transfusion-dependent anemia with multiorgan infolvement. The aim of this work is to present a group of patients diagnosed with some forms of hemoglobinopathy together with characteristics of individual mutation.