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Title: | Hb F Malta 1 : a biomarker for the developmental control of globin gene switching |
Other Titles: | 10th Malta Medical School Conference : conference abstract book |
Authors: | Camilleri, Alexander Galdies, Ruth Cassar, Wilhelmina Grech, Laura Ebejer, Jean Paul Borg, Joseph J. Scerri, Christian A. Felice, Alex E. |
Keywords: | Globin genes Hydroxyurea Beta-Thalassemia Hemoglobin -- Malta |
Issue Date: | 2018 |
Publisher: | University of Malta. Medical School |
Citation: | Camilleri, A., Galdies, R., Cassar, W., Grech, L., Ebejer, J.P., Borg, J.J…. Felice, A.E. (2018). Hb F Malta 1: a biomarker for the developmental control of globin gene switching. In P. Schembri-Wismayer, R. Galea, C. Scerri, R. Muscat & A. Fenech (Eds.), 10th Malta Medical School Conference : conference abstract book (pp. 241). |
Abstract: | Introduction: Commonly occurring foetal haemoglobin variants (Hb F Malta 1 and Hb F Sardinia) were used as biomarkers in order to search for quantitative trait loci which are associated with the expression of foetal haemoglobin in the perinatal period. Methods: A total of 282 Hb F Malta 1 newborns were enrolled in the study. Reverse phase HPLC was used for globin chain quantification and several genotyping techniques were used to characterise known quantitative trait loci. Two Hb F Malta 1 homozygotes were sequenced with NGS to find regions which are coinherited with Hb F Malta 1. Results: BCL11A rs4671393 polymorphism was found to be associated with increased foetal haemoglobin. XmnI polymorphism was associated with increased γ-globin expression whilst Hb F Sardinia compound heterozygotes were found to have increased Hb F Malta 1. Several upstream and downstream olfactory genes are coinherited with Hb F Malta 1. These regions are thought to contain foetal haemoglobin enhancer regions. Conclusion: The significance of XmnI polymorphism suggests the presence of stress erythropoiesis in the newborn. A BCL11A variant delays the foetal to adult haemoglobin switching. Further research with NGS might reveal long range regulatory regions. Disclosures: This study was funded by the Endeavour Scholarship Scheme |
URI: | https://www.um.edu.mt/library/oar/handle/123456789/99701 |
ISSN: | 18133339 |
Appears in Collections: | Scholarly Works - FacHScABS |
Files in This Item:
File | Description | Size | Format | |
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Hb_F_Malta_1.pdf | 102.23 kB | Adobe PDF | View/Open |
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