Thalassemias and hemoglobin variants in children
Authors:
L. Sulovská 1; M. Divoká 2; Z. Novák 1; J. Hak 3; M. Orviská 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; Dětská klinika, Fakultní nemocnice Hradec Králové
3
Published in:
Čes-slov Pediat 2017; 72 (8): 464-470.
Věnováno panu profesorovi Hrodkovi, zakladateli moderní dětské hematologie v České republice
Overview
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 involvement. The aim of this work is to present a group of patients diagnosed with some forms of hemoglobinopathy together with characteristics of individual mutation.
Methods:
32 children were examed for suspected hemoglobinopathy between 2007–2017. Complete blood count, iron metabolism parameters and special hematological tests were evaluated. Mutations in HBA and HBB genes were confirmed by molecular genetic testing.
Results:
We diagnosed eight α-thalassemia carriers, one patient with hemoglobin H disease, eighteen patients with β-thalassemia minor, one patient with β-thalassemia major and four patients with hemoglobin variants (HbE, Hb Monroe, Hb Sydney and sickle cell disease).
Conclusion:
Hemoglobinopathies can be exactly diagnosed by molecular genetic testing – MLPA and Sanger sequencing. As a result of global migration, new mutations of globin genes can be imported in Czech population genofond.
Key words:
hemoglobinopathies, thalassemias, structural hemoglobin variants
Sources
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Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2017 Issue 8
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