open access

Vol 4, No 3 (2013)
Review paper
Published online: 2013-11-12
Get Citation

Thalassemias — pathophysiology, molecular basics and diagnostics

Paweł Turowski, Małgorzata Uhrynowska, Ewa Brojer
Hematologia 2013;4(3):239-256.

open access

Vol 4, No 3 (2013)
REVIEW ARTICLES
Published online: 2013-11-12

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.

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.
Get Citation

Keywords

thalassemia, mutation, pathophysiology, hemolytic anemia, hemoglobinopathy

About this article
Title

Thalassemias — pathophysiology, molecular basics and diagnostics

Journal

Hematology in Clinical Practice

Issue

Vol 4, No 3 (2013)

Article type

Review paper

Pages

239-256

Published online

2013-11-12

Bibliographic record

Hematologia 2013;4(3):239-256.

Keywords

thalassemia
mutation
pathophysiology
hemolytic anemia
hemoglobinopathy

Authors

Paweł Turowski
Małgorzata Uhrynowska
Ewa Brojer

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