Article
Genetic analysis of 39 erythrocytosis and hereditary hemochromatosis-associated genes in the Slovenian family with idiopathic erythrocytosis.
Journal of clinical laboratory analysis - 1 Apr 2021
Kristan Aleša, Gašperšič Jernej, Režen Tadeja, Kunej Tanja, Količ Rok, Vuga Andrej, Fink Martina, Žula Špela, Anžej Doma Saša, Preložnik Zupan Irena, Pajič Tadej, Podgornik Helena, Debeljak Nataša
Abstract excerpt
BACKGROUND: Erythrocytosis is a condition with an excessive number of erythrocytes, accompanied by an elevated haemoglobin and/or haematocrit value. Congenital erythrocytosis has a diverse genetic background with several genes involved in erythropoiesis. In clinical practice, nine genes are usually examined, but in approximately 70% of patients, no causative mutation can be identified. In this study, we screened...
Topics
- Adult
- Aged
- Base Sequence
- Computational Biology
- Family
- Female
- Gene Frequency
- Genetic Association Studies
- Genetic Predisposition to Disease
- Hemochromatosis