Year: 2013
Type: article
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.
Source: Via Medica Journals
Authors: P. Turowski, Małgorzata Uhrynowska, Ewa Brojer
Language: Polish
Subfield: Genetics (clinical)
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W2581581184