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Title: Candidate molecular regulators of developmental globin gene switching
Authors: Borg, Joseph
Phylactides, Marios
Grech, Godfrey
Scerri, Christian
Cassar, Wilhelmina
Galdies, Ruth
Lindern, Marieke von
Ijken, Wilfred van
Ho, Jun
Philipsen, Sjaak
Grosveld, Frank
Patrinos, George P.
Felice, Alex E.
Keywords: Molecular genetics -- Malta -- Case studies
Fetal hemoglobin
Issue Date: 2009
Publisher: University of Malta Medical School
Citation: Borg, J., Phylactides, M., Grech, G., Scerri, C.A., Cassar, A., Galdies, R.,…Felice, A.E. (2009). Candidate molecular regulators of developmental globin gene switching. Conference: 7th Malta Medical School Conference. In Malta Medical Journal, 21, (Suppl.), p39. H5.
Abstract: A rare and unique Maltese family consisting of 10 family members with high levels of foetal haemoglobin (HbF ~3.5% to 20%) together with the HbF variant; Hb F Malta I [alpha2Ggamma2 117(G19)His>Arg] + Hb Valletta [alpha2beta2 87(f3)Thr>Pro] and 19 family members with normal levels of foetal haemoglobin (HbF <1.0%), spanning 4 generations was identified from testing Programs done at the Laboratory of Molecular Genetics, University of Malta in conjunction with the Thalassaemia and Molecular Genetics Clinic, Mater Dei Hospital, Malta. Extensive molecular haplotyping and DNA sequencing across the beta globin locus was carried out as explained in mutation/LabProtocols.aspx. Human Erythroid Progenitor cells were isolated and cultured from 30mls of peripheral whole blood from 15 members of the family.
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