Hemoglobinopathies and thalasemias – genetic basis and molecular diagnosis
Journal Title: Postępy Nauk Medycznych - Year 2012, Vol 25, Issue 7
Abstract
Hemoglobinopathies and thalasemias are genetic disorders connected with the presence of mutations in genes coding globin proteins, mainly in genes coding α and β globin. Hemoglobinopathies are connected with haemoglobin protein alterations. Thalasemias are caused by decreased production of specific globin chains. Mutations in γ globin gene cause an increase in haemoglobin F concentration in adults, and this condition was called hereditary persistence of fetal haemoglobin (HPFH). Taking into consideration the fact that this disorders are presently common in the areas (including Poland), where they have not been previously often detected, there is increasing need to develop better diagnostic methods, evaluating genes coding globin proteins. They should detect not only common mutations, but also rare and <i>de novo</i> mutations. Their application is also important in prenatal diagnosis, particulary in populations with high frequency of thalasemias and hemoglobinopathies.
Authors and Affiliations
Katarzyna Koza, Jadwiga Fabijańska-Mitek, Adrianna Łoniewska-Lwowska
Keywords
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