Authors: L. Sulovská 1;  M. Divoká 2;  D. Pospíšilová 1
Authors‘ workplace: Dětská klinika, Fakultní nemocnice a Lékařská fakulta Univerzity Palackého, Olomouc 1;  Hemato-onkologická klinika, Fakultní nemocnice a Lékařská fakulta Univerzity Palackého, Olomouc 2
Published in: Čes-slov Pediat 2017; 72 (8): 457-463.

Věnováno panu profesorovi Hrodkovi, zakladateli moderní dětské hematologie v České republice


Thalassemias represent heterogenic group of inhereted red blood cells disorders. It is caused by imbalance of globin chains in hemoglobin molecule, which leads to ineffective erythropoiesis in a bone marrow and shortening of erythrocyte´s life span. Clinical and laboratory presentation is heterogenic and depends on number of affected genes. Thalassemia carriers are asymptomatic with microcytic erythrocytes and hemoglobin level can be decreased in some cases. Severe forms of thalassemia are associated with severe microcytic hypochromic anemia, an increased hemolysis and with a related complications. Diagnosis of thalassemia consists of analysis of hemoglobin spectrum and detection of the causal mutations by molecular genetic methods.. Carriers of thlassemia allele require no therapy, patients with severe form need a regular transfusion regime. As a curative procedures, hematopoetic stem cell transplantation and gene therapy can be used. Prenatal testing is also available.

α-thalassemia, β-thalassemia, diagnostics, molecular genetic methods


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Neonatology Paediatrics General practitioner for children and adolescents
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